Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation-Reference-Cited by-同舟云学术

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

Published:2000-11 Issue:5 Volume:58 Page:1870-1875
ISSN:0085-2538
Container-title:Kidney International
language:en
Short-container-title:Kidney International

Author:

Van Der Loop Frank T.L.,Heidet Laurence,Timmer Erika D.J.,Van Den Bosch Bianca J.C.,Leinonen Anu,Antignac Corinne,Jefferson J. Ashley,Maxwell A. Peter,Monnens Leo A.H.,Schröder Cornelis H.,Smeets Hubert J.M.

Publisher

Elsevier BV

Subject

Nephrology

Reference25 articles.

1. The clinical spectrum of type IV collagen mutations;Lemmink;Hum Mutat,1997

2. Alport syndrome: An inherited disorder of renal, ocular and cochlear basement membranes;Kashtan;Medicine,1999

3. Genetics of classic Alport syndrome;Flinter;Lancet,1988

4. Type IV collagen: Structure, gene organization, and role in human diseases;Hudson;J Biol Chem,1993

5. Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin;Van der loop;Kidney Int,1999

Cited by 112 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Novel Loss-of-Function Variant in COL4A3 in a Consanguineous Moroccan Family Displaying the Alport Syndrome with Variable Clinical Expression;Molecular Syndromology;2024-07-24

2. Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study;Ophthalmic Genetics;2024-04-15

3. Autosomal dominant tubulointerstitial kidney disease cosegregating with COL4A4:p.G545A in Turkish Cypriot families with kidney failure;2023-04-28

4. Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families;Kidney Medicine;2023-04

5. Mutation Analysis of Thin Basement Membrane Nephropathy;Genes;2022-10-02