PMID: 8004093

Mosser J, Lutz Y, Stoeckel ME, Sarde CO, Kretz C, Douar AM, Lopez J, Aubourg P, Mandel JL
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein.
Hum Mol Genet. 1994 Feb;3(2):265-71., [PubMed]
Sentences
No. Mutations Sentence Comment
27 ABCD1 p.Leu279Val
X
ABCD1 p.Leu279Val 8004093:27:93
status: NEW
view ABCD1 p.Leu279Val details
ABCD1 p.Ala57Val
X
ABCD1 p.Ala57Val 8004093:27:67
status: NEW
view ABCD1 p.Ala57Val details
 The three constructs contain the sequences corresponding to codons Ala 57 to Val 301 (AC25), Leu 279 to Val 482 (AC 13) and De 495 to Lys 648 (AC3), respectively (fig. 1). Login to comment