X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5-Reference-Cited by-同舟云学术

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X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5

Published:2011-03-13 Issue:3 Volume:81 Page:240-248
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Demosthenous P,Voskarides K,Stylianou K,Hadjigavriel M,Arsali M,Patsias C,Georgaki E,Zirogiannis P,Stavrou C,Daphnis E,Pierides A,Deltas C,

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01647.x/fullpdf

Reference38 articles.

1. Alport's syndrome of hereditary nephritis with deafness.;Williamson;Lancet,1961

2. Hereditary familial congenital haemorrgagic nephritis.;Alport;Br med J,1927

3. Genetic heterogeneity of Alport syndrome.;Feingold;Kidney Int,1985

4. Mapping of Alport syndrome to the long arm of the X chromosome.;Atkin;Am J Hum Genet,1988

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

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5. X-linked Alport Syndrome with Type IV Collagen <i>α</i>5 Chain Staining Revealing Normal Expression in the Glomerular Basement Membrane and Negative on Bowman’s Capsule and Distal Tubular Basement Membrane: A Case Report;The Tohoku Journal of Experimental Medicine;2023

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