Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders:
Saved in:
| Main Author: | |
|---|---|
| Format: | Thesis Book |
| Language: | English |
| Published: |
2008
|
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Item Description: | Enth. 2 Sonderdr. aus: Kidney international ; 70.2006, S. 1008 -1012 und S. 980 - 982 |
| Physical Description: | 31 Bl. graph. Darst. 30 cm |
Staff View
MARC
| LEADER | 00000nam a2200000 c 4500 | ||
|---|---|---|---|
| 001 | BV023402922 | ||
| 003 | DE-604 | ||
| 005 | 20081216 | ||
| 007 | t | ||
| 008 | 080718s2008 d||| m||| 00||| eng d | ||
| 016 | 7 | |a 989234606 |2 DE-101 | |
| 035 | |a (OCoLC)244074953 | ||
| 035 | |a (DE-599)DNB989234606 | ||
| 040 | |a DE-604 |b ger |e rakddb | ||
| 041 | 0 | |a eng | |
| 049 | |a DE-29 | ||
| 082 | 0 | |a 611.018 |2 22/ger | |
| 084 | |a 610 |2 sdnb | ||
| 100 | 1 | |a Hasselbacher, Katrin |d 1979- |e Verfasser |0 (DE-588)135711282 |4 aut | |
| 245 | 1 | 0 | |a Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders |c von Katrin Hasselbacher |
| 264 | 1 | |c 2008 | |
| 300 | |a 31 Bl. |b graph. Darst. |c 30 cm | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 500 | |a Enth. 2 Sonderdr. aus: Kidney international ; 70.2006, S. 1008 -1012 und S. 980 - 982 | ||
| 502 | |a Erlangen-Nürnberg, Univ., Diss., 2008 | ||
| 650 | 0 | 7 | |a Genmutation |0 (DE-588)4156638-5 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Nephrotisches Syndrom |0 (DE-588)4171469-6 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Angeborene Krankheit |0 (DE-588)4331107-6 |2 gnd |9 rswk-swf |
| 655 | 7 | |0 (DE-588)4113937-9 |a Hochschulschrift |2 gnd-content | |
| 689 | 0 | 0 | |a Nephrotisches Syndrom |0 (DE-588)4171469-6 |D s |
| 689 | 0 | 1 | |a Angeborene Krankheit |0 (DE-588)4331107-6 |D s |
| 689 | 0 | 2 | |a Genmutation |0 (DE-588)4156638-5 |D s |
| 689 | 0 | |5 DE-604 | |
| 856 | 4 | 2 | |m HBZ Datenaustausch |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=016585677&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 999 | |a oai:aleph.bib-bvb.de:BVB01-016585677 | ||
Record in the Search Index
| _version_ | 1804137786645676032 |
|---|---|
| adam_text | Titel: Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders
Autor: Hasselbacher, Katrin
Jahr: 2008
IV
Inhaltsverzeichnis
1. Zusammenfassung 1
2. Einleitung 4
3. Patients and methods 6
3.1 Patients 6
3.2 Linkage analysis, genotyping and mutation analysis 6
4. Results 7
4.1 Clinical data for family F1012 7
4.2 Genotyping and Mutational analysis for the candidate gene
LAMB2 of family F1012 7
4.3 Single homozygous LAMB2 mutation for family F1012 7
4.4 Screening for LAMB2 in six additional families 7
4.5 Clinical data for family F1234 8
4.6 Two compound heterozygous LAMB2 mutations for family
F1234 8
5. Discussion 9
6. Literaturverzeichnis 12
7. Abkürzungsverzeichnis 15
8. Anhang 16
V
8.1 Figure 1 16
8.2Figure2 18
8.3Table1 19
8.4 Orginalpublikation aus Kidney International 20
8.5 Editorial aus Kidney International 25
9. Danksagung 28
10. Lebenslauf 29
|
| adam_txt |
Titel: Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders
Autor: Hasselbacher, Katrin
Jahr: 2008
IV
Inhaltsverzeichnis
1. Zusammenfassung 1
2. Einleitung 4
3. Patients and methods 6
3.1 Patients 6
3.2 Linkage analysis, genotyping and mutation analysis 6
4. Results 7
4.1 Clinical data for family F1012 7
4.2 Genotyping and Mutational analysis for the candidate gene
LAMB2 of family F1012 7
4.3 Single homozygous LAMB2 mutation for family F1012 7
4.4 Screening for LAMB2 in six additional families 7
4.5 Clinical data for family F1234 8
4.6 Two compound heterozygous LAMB2 mutations for family
F1234 8
5. Discussion 9
6. Literaturverzeichnis 12
7. Abkürzungsverzeichnis 15
8. Anhang 16
V
8.1 Figure 1 16
8.2Figure2 18
8.3Table1 19
8.4 Orginalpublikation aus Kidney International 20
8.5 Editorial aus Kidney International 25
9. Danksagung 28
10. Lebenslauf 29 |
| any_adam_object | 1 |
| any_adam_object_boolean | 1 |
| author | Hasselbacher, Katrin 1979- |
| author_GND | (DE-588)135711282 |
| author_facet | Hasselbacher, Katrin 1979- |
| author_role | aut |
| author_sort | Hasselbacher, Katrin 1979- |
| author_variant | k h kh |
| building | Verbundindex |
| bvnumber | BV023402922 |
| ctrlnum | (OCoLC)244074953 (DE-599)DNB989234606 |
| dewey-full | 611.018 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 611 - Human anatomy, cytology, histology |
| dewey-raw | 611.018 |
| dewey-search | 611.018 |
| dewey-sort | 3611.018 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| discipline_str_mv | Medizin |
| format | Thesis Book |
| fullrecord | <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01696nam a2200409 c 4500</leader><controlfield tag="001">BV023402922</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">20081216 </controlfield><controlfield tag="007">t</controlfield><controlfield tag="008">080718s2008 d||| m||| 00||| eng d</controlfield><datafield tag="016" ind1="7" ind2=" "><subfield code="a">989234606</subfield><subfield code="2">DE-101</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)244074953</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DNB989234606</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-604</subfield><subfield code="b">ger</subfield><subfield code="e">rakddb</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="049" ind1=" " ind2=" "><subfield code="a">DE-29</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">611.018</subfield><subfield code="2">22/ger</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">610</subfield><subfield code="2">sdnb</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Hasselbacher, Katrin</subfield><subfield code="d">1979-</subfield><subfield code="e">Verfasser</subfield><subfield code="0">(DE-588)135711282</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders</subfield><subfield code="c">von Katrin Hasselbacher</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2008</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">31 Bl.</subfield><subfield code="b">graph. Darst.</subfield><subfield code="c">30 cm</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="b">n</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="b">nc</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">Enth. 2 Sonderdr. aus: Kidney international ; 70.2006, S. 1008 -1012 und S. 980 - 982</subfield></datafield><datafield tag="502" ind1=" " ind2=" "><subfield code="a">Erlangen-Nürnberg, Univ., Diss., 2008</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Genmutation</subfield><subfield code="0">(DE-588)4156638-5</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Nephrotisches Syndrom</subfield><subfield code="0">(DE-588)4171469-6</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Angeborene Krankheit</subfield><subfield code="0">(DE-588)4331107-6</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="655" ind1=" " ind2="7"><subfield code="0">(DE-588)4113937-9</subfield><subfield code="a">Hochschulschrift</subfield><subfield code="2">gnd-content</subfield></datafield><datafield tag="689" ind1="0" ind2="0"><subfield code="a">Nephrotisches Syndrom</subfield><subfield code="0">(DE-588)4171469-6</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2="1"><subfield code="a">Angeborene Krankheit</subfield><subfield code="0">(DE-588)4331107-6</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2="2"><subfield code="a">Genmutation</subfield><subfield code="0">(DE-588)4156638-5</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2=" "><subfield code="5">DE-604</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="m">HBZ Datenaustausch</subfield><subfield code="q">application/pdf</subfield><subfield code="u">http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=016585677&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA</subfield><subfield code="3">Inhaltsverzeichnis</subfield></datafield><datafield tag="999" ind1=" " ind2=" "><subfield code="a">oai:aleph.bib-bvb.de:BVB01-016585677</subfield></datafield></record></collection> |
| genre | (DE-588)4113937-9 Hochschulschrift gnd-content |
| genre_facet | Hochschulschrift |
| id | DE-604.BV023402922 |
| illustrated | Illustrated |
| index_date | 2024-07-02T21:24:26Z |
| indexdate | 2024-07-09T21:17:50Z |
| institution | BVB |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-016585677 |
| oclc_num | 244074953 |
| open_access_boolean | |
| owner | DE-29 |
| owner_facet | DE-29 |
| physical | 31 Bl. graph. Darst. 30 cm |
| publishDate | 2008 |
| publishDateSearch | 2008 |
| publishDateSort | 2008 |
| record_format | marc |
| spelling | Hasselbacher, Katrin 1979- Verfasser (DE-588)135711282 aut Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders von Katrin Hasselbacher 2008 31 Bl. graph. Darst. 30 cm txt rdacontent n rdamedia nc rdacarrier Enth. 2 Sonderdr. aus: Kidney international ; 70.2006, S. 1008 -1012 und S. 980 - 982 Erlangen-Nürnberg, Univ., Diss., 2008 Genmutation (DE-588)4156638-5 gnd rswk-swf Nephrotisches Syndrom (DE-588)4171469-6 gnd rswk-swf Angeborene Krankheit (DE-588)4331107-6 gnd rswk-swf (DE-588)4113937-9 Hochschulschrift gnd-content Nephrotisches Syndrom (DE-588)4171469-6 s Angeborene Krankheit (DE-588)4331107-6 s Genmutation (DE-588)4156638-5 s DE-604 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=016585677&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Hasselbacher, Katrin 1979- Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders Genmutation (DE-588)4156638-5 gnd Nephrotisches Syndrom (DE-588)4171469-6 gnd Angeborene Krankheit (DE-588)4331107-6 gnd |
| subject_GND | (DE-588)4156638-5 (DE-588)4171469-6 (DE-588)4331107-6 (DE-588)4113937-9 |
| title | Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders |
| title_auth | Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders |
| title_exact_search | Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders |
| title_exact_search_txtP | Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders |
| title_full | Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders von Katrin Hasselbacher |
| title_fullStr | Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders von Katrin Hasselbacher |
| title_full_unstemmed | Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders von Katrin Hasselbacher |
| title_short | Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders |
| title_sort | recessive missense mutations in lamb2 expand the clinical spectrum of lamb2 associated disorders |
| topic | Genmutation (DE-588)4156638-5 gnd Nephrotisches Syndrom (DE-588)4171469-6 gnd Angeborene Krankheit (DE-588)4331107-6 gnd |
| topic_facet | Genmutation Nephrotisches Syndrom Angeborene Krankheit Hochschulschrift |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=016585677&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT hasselbacherkatrin recessivemissensemutationsinlamb2expandtheclinicalspectrumoflamb2associateddisorders |