Molecular pathology and genetics of Alport syndrome:
This publication provides a unique review of the immense progress that has been made in Alport syndrome research during the last few years. Written by scientists at the forefront of recent developments, the chapters outline current understanding of the epidemiology, genetics, pathology and clinical...
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Basel [u.a.]
Karger
1996
|
| Schriftenreihe: | Contributions to nephrology
117 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Zusammenfassung: | This publication provides a unique review of the immense progress that has been made in Alport syndrome research during the last few years. Written by scientists at the forefront of recent developments, the chapters outline current understanding of the epidemiology, genetics, pathology and clinical features of Alport syndrome. The book also provides extensive description of the structural properties of the glomerular basement membrane, and type IV collagen and its genes that are mutated in the disease Thorough coverage is given to the nature of the mutations and the phenotypes they cause as well as to present methods for linkage analysis and DNA diagnosis. 'Molecular Pathology and Genetics of Alport Syndrome' is not only an important reference for nephrologists and kidney transplantation surgeons but will also interest specialists in internal medicine, pediatrics, urology and genetics |
| Beschreibung: | 204 S. Ill., graph. Darst. |
| ISBN: | 3805561938 |
Internformat
MARC
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| 245 | 1 | 0 | |a Molecular pathology and genetics of Alport syndrome |c vol. ed. K. Tryggvason |
| 264 | 1 | |a Basel [u.a.] |b Karger |c 1996 | |
| 300 | |a 204 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 490 | 1 | |a Contributions to nephrology |v 117 | |
| 520 | 3 | |a This publication provides a unique review of the immense progress that has been made in Alport syndrome research during the last few years. Written by scientists at the forefront of recent developments, the chapters outline current understanding of the epidemiology, genetics, pathology and clinical features of Alport syndrome. The book also provides extensive description of the structural properties of the glomerular basement membrane, and type IV collagen and its genes that are mutated in the disease | |
| 520 | |a Thorough coverage is given to the nature of the mutations and the phenotypes they cause as well as to present methods for linkage analysis and DNA diagnosis. 'Molecular Pathology and Genetics of Alport Syndrome' is not only an important reference for nephrologists and kidney transplantation surgeons but will also interest specialists in internal medicine, pediatrics, urology and genetics | ||
| 650 | 4 | |a Alport's syndrome |x Genetic aspects | |
| 650 | 4 | |a Alport's syndrome |x Molecular aspects | |
| 650 | 4 | |a Nephritis, Hereditary |x genetics | |
| 650 | 4 | |a Nephritis, Hereditary |x pathology | |
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| 650 | 0 | 7 | |a Erbkrankheit |0 (DE-588)4015106-2 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Alport-Syndrom |0 (DE-588)4309042-4 |2 gnd |9 rswk-swf |
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| 830 | 0 | |a Contributions to nephrology |v 117 |w (DE-604)BV000000413 |9 117 | |
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Datensatz im Suchindex
| _version_ | 1807320575443468288 |
|---|---|
| adam_text |
CONTENTS
PREFACE
.
VII
ALPORT
SYNDROME
-
CLINICAL
PHENOTYPES,
INCIDENCE,
AND
PATHOLOGY
.
1
GREGORY,
M.C.;
TERREROS,
D.A.;
BARKER,
D.F.;
FAIN,
P.N.;
DENISON,
J.C.;
ATKIN,
C.L.
(SALT
LAKE
CITY,
UTAH)
APPLICATION
OF
LINKED
MARKERS
FOR
GENETIC
DIAGNOSIS
OF
ALPORT
SYNDROME
.
29
BARKER,
D.F.;
ATKIN,
C.L.;
GREGORY,
M.C.;
FAIN,
P.R.
(SALT
LAKE
CITY,
UTAH)
MOLECULAR
PROPERTIES
OF
THE
GLOMERULAR
BASEMENT
MEMBRANE
.
46
PIHLAJANIEMI,
T.
(OULU)
THE
A
CHAINS
OF
TYPE
IV
COLLAGEN
.
80
ZHOU,
I;
REEDERS,
S.T.
(BOSTON,
MASS.)
THE
TYPE
IV
COLLAGEN
GENE
FAMILY
.
105
HEIKKILA,
P.;
SOININEN,
R.
(OULU)
DISTRIBUTION
OF
TYPE
IV
COLLAGEN
AL,
A2
AND
A5
CHAINS
IN
HUMAN
TISSUES
.
130
SARIOLA,
H.;
HOSTIKKA,
S.L.;
LUKKARILA,
S.;
TRYGGVASON,
K.
(OULU)
IMMUNOHISTOLOGIC
FINDINGS
IN
ALPORT
SYNDROME
.
142
KASHTAN,
C.E.;
KLEPPEL,
M.M.;
GUBLER,
M.-C.
(MINNEAPOLIS,
MINN./PARIS)
MUTATIONS
IN
TYPE
IV
COLLAGEN
GENES
AND
ALPORT
PHENOTYPES
.
154
TRYGGVASON,
K.
(OULU)
MUTATIONS
IN
ALPORT
SYNDROME
ASSOCIATED
WITH
DIFFUSE
ESOPHAGEAL
LEIOMYOMATOSIS
.
172
ANTIGNAC,
C.;
HEIDET,
L.
(PARIS)
NEW
APPROACHES
TO
THE
DNA
DIAGNOSIS
OF
ALPORT
SYNDROME
.
183
RENIERI,
A.;
DE
MARCHI,
M.
(ORBASSANO)
SUBJECT
INDEX
.
199 |
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| id | DE-604.BV010715083 |
| illustrated | Illustrated |
| indexdate | 2024-08-14T00:26:53Z |
| institution | BVB |
| isbn | 3805561938 |
| language | English |
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| physical | 204 S. Ill., graph. Darst. |
| publishDate | 1996 |
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| publisher | Karger |
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| series | Contributions to nephrology |
| series2 | Contributions to nephrology |
| spelling | Molecular pathology and genetics of Alport syndrome vol. ed. K. Tryggvason Basel [u.a.] Karger 1996 204 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Contributions to nephrology 117 This publication provides a unique review of the immense progress that has been made in Alport syndrome research during the last few years. Written by scientists at the forefront of recent developments, the chapters outline current understanding of the epidemiology, genetics, pathology and clinical features of Alport syndrome. The book also provides extensive description of the structural properties of the glomerular basement membrane, and type IV collagen and its genes that are mutated in the disease Thorough coverage is given to the nature of the mutations and the phenotypes they cause as well as to present methods for linkage analysis and DNA diagnosis. 'Molecular Pathology and Genetics of Alport Syndrome' is not only an important reference for nephrologists and kidney transplantation surgeons but will also interest specialists in internal medicine, pediatrics, urology and genetics Alport's syndrome Genetic aspects Alport's syndrome Molecular aspects Nephritis, Hereditary genetics Nephritis, Hereditary pathology Molekulargenetik (DE-588)4039987-4 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Alport-Syndrom (DE-588)4309042-4 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Alport-Syndrom (DE-588)4309042-4 s DE-604 Erbkrankheit (DE-588)4015106-2 s Molekulargenetik (DE-588)4039987-4 s Tryggvason, Karl Sonstige oth Contributions to nephrology 117 (DE-604)BV000000413 117 DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=007154820&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Molecular pathology and genetics of Alport syndrome Contributions to nephrology Alport's syndrome Genetic aspects Alport's syndrome Molecular aspects Nephritis, Hereditary genetics Nephritis, Hereditary pathology Molekulargenetik (DE-588)4039987-4 gnd Erbkrankheit (DE-588)4015106-2 gnd Alport-Syndrom (DE-588)4309042-4 gnd |
| subject_GND | (DE-588)4039987-4 (DE-588)4015106-2 (DE-588)4309042-4 (DE-588)4143413-4 |
| title | Molecular pathology and genetics of Alport syndrome |
| title_auth | Molecular pathology and genetics of Alport syndrome |
| title_exact_search | Molecular pathology and genetics of Alport syndrome |
| title_full | Molecular pathology and genetics of Alport syndrome vol. ed. K. Tryggvason |
| title_fullStr | Molecular pathology and genetics of Alport syndrome vol. ed. K. Tryggvason |
| title_full_unstemmed | Molecular pathology and genetics of Alport syndrome vol. ed. K. Tryggvason |
| title_short | Molecular pathology and genetics of Alport syndrome |
| title_sort | molecular pathology and genetics of alport syndrome |
| topic | Alport's syndrome Genetic aspects Alport's syndrome Molecular aspects Nephritis, Hereditary genetics Nephritis, Hereditary pathology Molekulargenetik (DE-588)4039987-4 gnd Erbkrankheit (DE-588)4015106-2 gnd Alport-Syndrom (DE-588)4309042-4 gnd |
| topic_facet | Alport's syndrome Genetic aspects Alport's syndrome Molecular aspects Nephritis, Hereditary genetics Nephritis, Hereditary pathology Molekulargenetik Erbkrankheit Alport-Syndrom Aufsatzsammlung |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=007154820&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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