Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns
Author:
Funder
NSF
Johns Hopkins University
Publisher
Oxford University Press (OUP)
Subject
Genetics(clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/24/21/5995/1669964/ddv309.pdf
Reference30 articles.
1. Further studies on the nature and causes of gene mutations;Muller;Proceedings of the 6th International Congress Genetics.,1932
2. Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product
3. Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)
4. Analyzing effects of naturally occurring missense mutations;Zhe Zhang;Comp. Math. Methods Med.,2012
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