Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA-Reference-Cited by-同舟云学术

Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA

Published:2010-05 Issue:1 Volume:100 Page:96-99
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Bashyam Murali D.,Chaudhary Ajay K.,Reddy E. Chandrakanth,Rama Devi A. Radha,Savithri G.R.,Ratheesh R.,Bashyam Leena,Mahesh E.,Sen Dity,Puri Ratna,Verma Inder C.,Nampoothiri Sheela,Vaidyanathan Sunitha,Chandrashekar Mataguru D.,Kantheti Prameela

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference14 articles.

1. PAHdb 2003: what a locus-specific knowledgebase can do;Scriver;Hum. Mutat.,2003

2. Newborn screening in India;Rama Devi;Indian J. Pediatr.,2004

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

4. Heterogeneity of EBV-transformable human B lymphocyte populations;Chan;J. Immunol.,1986

5. Genomic profiling identifies GATA6 as a candidate oncogene amplified in pancreatobiliary cancer;Kwei;PLoS Genet.,2008

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