• Mutation; HGNC; HGNC:986; BCKDHA; Simple; p.Tyr438Asn (c.1312T>A) (Y393N); ClinVar=VCV000100009; Zygosity=Homozygous (PubMed=2241958).
  

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=2241958; DOI=10.1016/0006-291X(90)90723-Z
Ichiro Matsuda, Yoshitaka Nobukuni, Hiroshi Mitsubuchi, Yasuhiro Indo, Fumio Endo, Junichiro Asaka, Atsuko Harada;
A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.
Biochem. Biophys. Res. Commun. 172:646-651(1990)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)