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.

Tein, Ingrid

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. [electronic resource] - Molecular genetics and metabolism Feb 2008 - 179-89 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1096-7206

10.1016/j.ymgme.2007.09.021 doi


Abnormalities, Multiple--enzymology
Adolescent
Adult
Alleles
Animals
Base Sequence
Butyryl-CoA Dehydrogenase--deficiency
Child
Child, Preschool
DNA Primers--genetics
Female
Founder Effect
Heterozygote
Homozygote
Humans
Infant
Infant, Newborn
Jews--genetics
Male
Metabolism, Inborn Errors--enzymology
Mice
Muscular Diseases--enzymology
Phenotype
Point Mutation
Recombinant Proteins--genetics