PMID: 16600530

Lorenzo A, Auguet T, Vidal F, Broch M, Olona M, Gutierrez C, Lopez-Dupla M, Sirvent JJ, Quer JC, Santos M, Richart C
Polymorphisms of alcohol-metabolizing enzymes and the risk for alcoholism and alcoholic liver disease in Caucasian Spanish women.
Drug Alcohol Depend. 2006 Sep 15;84(2):195-200. Epub 2006 Apr 5., [PubMed]
Sentences
No. Mutations Sentence Comment
92 ABCD1 p.Glu487Lys
X
ABCD1 p.Glu487Lys 16600530:92:125
status: NEW
view ABCD1 p.Glu487Lys details
 The ALDH2 SNP studied is a G to A transition in exon 12 which translates lysine instead of glutamic acid at the residue 487 (Glu487Lys). Login to comment