ABCMdb

PMID: 9584268

Osaka H, Sekiguchi H, Inoue K, Ikuta K, Sakakihara Y, Oka A, Onishi H, Miyakawa T, Suzuki K, Kimura S, Kosaka K, Matsuyama S
A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation.
J Inherit Metab Dis. 1998 Apr;21(2):162-6., [PubMed]

Sentences

No. Mutations Sentence Comment

33 ABCD1 p.Leu322Pro We conÐrmed the absence of this L322P mutation in 75 unrelated Japanese individuals by restriction analysis. Login to comment 57 ABCD1 p.Leu322Pro The L322P mutation, residing in a hydrophobic region, also a†ects the amino acid common to ALD protein and 70K PMP. Login to comment 58 ABCD1 p.Leu322Pro We could not Ðnd this L322P mutation in Japanese normal controls; it is likely to be a mutation that causes ALD. Login to comment