A novel frameshift deletion in type IV collagen α5 gene in a juvenile-type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5-Reference-Cited by-同舟云学术

A novel frameshift deletion in type IV collagen α5 gene in a juvenile-type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5

Published:1994 Issue:4 Volume:3 Page:386-390
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Peissel Bernard,Rossetti Sandro,Renieri Alessandra,Galli Lucia,De Marchi Mario,Battini Graziana,Meroni Mietta,Sessa Adalberto,Schiavano Salvatore,Pignatti Pier Franco,Turco Alberto E.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference22 articles.

1. (1988a) Alporr Syndrome. In and eds.: Diseases of the Kid ney, 4th Ed. Little, Brown and Co., Boston, pp. 617-641.

2. Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

3. Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

4. An 8 bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient

Cited by 13 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 missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome;Clinical Genetics;2008-06-28

2. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling;Nephrology Dialysis Transplantation;2002-07-01

3. Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndrome;American Journal of Kidney Diseases;1997-08

4. Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease;HUM MUTAT;1997

5. The clinical spectrum of type IV collagen mutations;Human Mutation;1997-01