PMID: 19496984

Awaya T, Kato T, Niwa A, Hiramatsu H, Umeda K, Watanabe K, Shibata M, Yamanaka Y, Maruya E, Saji H, Nakahata T, Adachi S
Successful cord blood transplantation using a reduced-intensity conditioning regimen for advanced childhood-onset cerebral adrenoleukodystrophy.
Pediatr Transplant. 2011 Sep;15(6):E116-20. doi: 10.1111/j.1399-3046.2009.01188.x. Epub 2009 Jun 1., [PubMed]
Sentences
No. Mutations Sentence Comment
27 ABCD1 p.Gly512Asp
X
ABCD1 p.Gly512Asp 19496984:27:53
status: NEW
view ABCD1 p.Gly512Asp details
 Genetic analysis of ABCD1 showed a point mutation at G512D (G1535A). Login to comment