Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin-Reference-Cited by-同舟云学术

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

Published:2008-02 Issue:2 Volume:93 Page:179-189
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Tein Ingrid,Elpeleg Orly,Ben-Zeev Bruria,Korman Stanley H.,Lossos Alexander,Lev Dorit,Lerman-Sagie Tally,Leshinsky-Silver Esther,Vockley Jerry,Berry Gerard T.,Lamhonwah Anne-Marie,Matern Dietrich,Roe Charles R.,Gregersen Niels

Publisher

Elsevier BV

Subject

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

Reference66 articles.

1. Purification and properties of short-chain acyl-CoA, medium-chain acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver;Finocchiaro;Adv. Neurol.,1988

2. Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients;Amendt;J. Clin. Invest.,1987

3. Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness;Coates;J. Clin. Invest.,1988

4. Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency;Naito;J. Clin. Invest.,1990

5. A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria;Sewell;Eur. J. Pediatr.,1993

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