A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome-Reference-Cited by-同舟云学术

A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome

Published:2008-06-28 Issue:5 Volume:48 Page:261-263
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Turco Alberto E.,Rossetti Sandro,Biasi M. Olivia,Rizzoni Gianfranco,Massella Laura,Saarinen Niina H.,Renieri Allessandra,Pignatti Pier Franco,Marchi Mario

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1995.tb04101.x/fullpdf

Reference13 articles.

1. Identification of mutations in the COL4A5 collagen gene in Alport syndrome;Barker;Science,1990

2. Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients;Boye;Hum Mutat,1995

3. A splicing mutation in the α5 (TV) collagen gene of a family with Alport's syndrome;Nomura;Kidney Int,1993

4. 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;Peissel;Hum Mutat,1994

5. Alport syndrome caused by a 5′ deletion within the COL4A5 gene;Renieri;Hum Genet,1992

Cited by 5 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. Epidermal basement membrane α5(IV) expression in females with Alport syndrome and severity of renal disease;Kidney International;2003-11

2. References;Handbook of Mouse Auditory Research;2001-05-23

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

4. Detection of mutations in human genes by a new rapid method: cleavage fragment length polymorphism analysis (CFLPA);Molecular and Cellular Probes;1997-04

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