PMID: 7919919

Aubourg P
Adrenoleukodystrophy and other peroxisomal diseases.
Curr Opin Genet Dev. 1994 Jun;4(3):407-11., [PubMed]
Sentences
No. Mutations Sentence Comment
34 ABCD1 p.Glu291Lys
X
ABCD1 p.Glu291Lys 7919919:34:78
status: NEW
view ABCD1 p.Glu291Lys details
 The first mutation in the AID gene to be characterized (G1257+A, converting a glutamic acid to lysine at residue 291 of the protein) was identified in a patient having a new TuqI restriction site in exon 1. Login to comment