PMID: 21834803

Niizuma H, Uematsu M, Sakamoto O, Uchiyama T, Horino S, Onuma M, Matsuhashi T, Rikiishi T, Sasahara Y, Minegishi M, Tsuchiya S
Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages.
Pediatr Transplant. 2012 Mar;16(2):E63-70. doi: 10.1111/j.1399-3046.2011.01539.x. Epub 2011 Aug 11., [PubMed]
Sentences
No. Mutations Sentence Comment
39 ABCD1 p.Leu154Pro
X
ABCD1 p.Leu154Pro 21834803:39:151
status: NEW
view ABCD1 p.Leu154Pro details
 Sequence analysis of ABCD1 gene on genomic DNA extracted from the peripheral blood mononuclear cells revealed a missense point mutation of c.461T>C (p.L154P). Login to comment