PMID: 26609365

Suryawanshi A, Middleton T, Ganda K
An unusual presentation of X-linked adrenoleukodystrophy.
Endocrinol Diabetes Metab Case Rep. 2015;2015:150098. doi: 10.1530/EDM-15-0098. Epub 2015 Nov 3., [PubMed]
Sentences
No. Mutations Sentence Comment
57 ABCD1 p.Gly512Ser
X
ABCD1 p.Gly512Ser 26609365:57:116
status: NEW
view ABCD1 p.Gly512Ser details
 The diagnosis of X-ALD was then confirmed by gene testing with a hemizygous mutation in the ABCD1 gene (c.1534GOA(p.Gly512Ser)). Login to comment