Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing-Reference-Cited by-同舟云学术

Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing

Published:2014-05-22 Issue:12 Volume:25 Page:2740-2751
ISSN:1046-6673
Container-title:Journal of the American Society of Nephrology
language:en
Short-container-title:JASN

Author:

Morinière Vincent,Dahan Karin,Hilbert Pascale,Lison Marieline,Lebbah Said,Topa Alexandra,Bole-Feysot Christine,Pruvost Solenn,Nitschke Patrick,Plaisier Emmanuelle,Knebelmann Bertrand,Macher Marie-Alice,Noel Laure-Hélène,Gubler Marie-Claire,Antignac Corinne,Heidet Laurence

Publisher

American Society of Nephrology (ASN)

Subject

Nephrology,General Medicine

Reference40 articles.

1. Alport syndrome

2. Alport's syndrome as a cause of renal failure in Europe

3. Atkin CL Gregory MC Border WA : Alport syndrome. In: Diseases of the Kidney, edited by Schrier RW Gottschalk CW , Boston, Little and Brown, 1988, pp 617–641

4. Estimating prevalence in single-gene kidney diseases progressing to renal failure

5. Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis.

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