TY  - GEN
AU  - Tein,Ingrid
AU  - Elpeleg,Orly
AU  - Ben-Zeev,Bruria
AU  - Korman,Stanley H
AU  - Lossos,Alexander
AU  - Lev,Dorit
AU  - Lerman-Sagie,Tally
AU  - Leshinsky-Silver,Esther
AU  - Vockley,Jerry
AU  - Berry,Gerard T
AU  - Lamhonwah,Anne-Marie
AU  - Matern,Dietrich
AU  - Roe,Charles R
AU  - Gregersen,Niels
TI  - 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
SN  - 1096-7206
PY  - 2008///0403
KW  - Abnormalities, Multiple
KW  - enzymology
KW  - Adolescent
KW  - Adult
KW  - Alleles
KW  - Animals
KW  - Base Sequence
KW  - Butyryl-CoA Dehydrogenase
KW  - deficiency
KW  - Child
KW  - Child, Preschool
KW  - DNA Primers
KW  - genetics
KW  - Female
KW  - Founder Effect
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Jews
KW  - Male
KW  - Metabolism, Inborn Errors
KW  - Mice
KW  - Muscular Diseases
KW  - Phenotype
KW  - Point Mutation
KW  - Recombinant Proteins
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2007.09.021
ER  -