Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency-Reference-Cited by-同舟云学术

Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency

Published:2003-02 Issue:2 Volume:78 Page:100-107
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Dobrowolski Steven F,Angeletti Janine,Banas Richard A,Naylor Edwin W

Publisher

Elsevier BV

Subject

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

Reference31 articles.

1. Worldwide survey of neonatal screening for biotinidase deficiency;Wolf;J. Inher. Met. Dis.,1991

2. National Newborn Screening and Genetics Resource Center http://genes-r-us.uthhscsa.edu

3. Biotinidase deficiency: a novel vitamin recycling defect;Wolf;J. Inher. Metab. Dis.,1985

4. Partial biotinidase deficiency: clinical and biochemical features;Secor McCoy;J. Pediatr.,1990

5. Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States;Norrgard;Biochem. Mol. Med.,1997

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