Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β-Reference-Cited by-同舟云学术

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Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β

Published:2012-08-09 Issue:10 Volume:113 Page:3122-3132
ISSN:0730-2312
Container-title:Journal of Cellular Biochemistry
language:en
Short-container-title:J. Cell. Biochem.

Author:

Bashyam Murali D.,Chaudhary Ajay K.,Sinha Manjari,Nagarajaram H.A.,Devi A. Radha Rama,Bashyam Leena,Reddy E. Chandrakanth,Dalal Ashwin

Publisher

Wiley

Subject

Cell Biology,Molecular Biology,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jcb.24189/fullpdf

Reference27 articles.

1. Hansa: An automated method for discriminating disease and neutral human nsSNPs;Acharya;Hum Mutat,2012

2. Nonsense-mediated decay: Linking a basic cellular process to human disease;Bashyam;Expert Rev Mol Diagn,2009

3. Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene;Bashyam;J Hum Genet,2004

4. Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA;Bashyam;Mol Genet Metab,2010

5. An Ectodysplasin A receptor (EDAR) founder mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India;Bashyam;Br J Dermatol,2012

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3. Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India;American Journal of Medical Genetics Part A;2021-12-04

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