ABCD1 p.Leu154Pro
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 21834803
[PubMed]
Niizuma H et al: "Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages."
No.
Sentence
Comment
39
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).
X
ABCD1 p.Leu154Pro 21834803:39:151
status: NEW