Identification of mutations, genotype–phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients-Reference-Cited by-同舟云学术

Identification of mutations, genotype–phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients

Published:2015-09 Issue:9 Volume:58 Page:471-478
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Gupta Deepti,Bijarnia-Mahay Sunita^ORCID,Saxena Renu,Kohli Sudha,Dua-Puri Ratna,Verma Jyotsna,Thomas E.,Shigematsu Yosuke,Yamaguchi Seiji,Deb Roumi,Verma Ishwar Chander

Funder

Research Development Board of Sir Ganga Ram Hospital (SGRH)

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference37 articles.

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5. Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β;Bashyam;J. Cell Biochem.,2012

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