Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis-Reference-Cited by-同舟云学术

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Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis

Published:2010-01-08 Issue:7 Volume:19 Page:1302-1313
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Sergeev Y.V.,Caruso R.C.,Meltzer M.R.,Smaoui N.,MacDonald I.M.,Sieving P.A.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference64 articles.

1. X-linked retinoschisis: an update;J. Med. Genet.,2007

2. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis;The Retinoschisis Consortium;Hum. Mol. Genet.,1998

3. Positional cloning of the gene associated with X-linked juvenile retinoschisis;Nat. Genet.,1997

4. Functional impact of missense variants in BRCA1 predicted by supervised learning;PLoS Comput. Biol.,2007

5. In silico analysis of missense substitutions using sequence-alignment based methods;Hum. Mutat.,2008

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3. Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X‐linked retinoschisis from North India;American Journal of Medical Genetics Part A;2023-06-15

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