PMID: 19892975

Cartier N, Hacein-Bey-Abina S, Bartholomae CC, Veres G, Schmidt M, Kutschera I, Vidaud M, Abel U, Dal-Cortivo L, Caccavelli L, Mahlaoui N, Kiermer V, Mittelstaedt D, Bellesme C, Lahlou N, Lefrere F, Blanche S, Audit M, Payen E, Leboulch P, l'Homme B, Bougneres P, Von Kalle C, Fischer A, Cavazzana-Calvo M, Aubourg P
Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy.
Science. 2009 Nov 6;326(5954):818-23., [PubMed]
Sentences
No. Mutations Sentence Comment
26 ABCD1 p.Glu609Lys
X
ABCD1 p.Glu609Lys 19892975:26:123
status: NEW
view ABCD1 p.Glu609Lys details
 These two patients, aged 7.5 years (P1) and 7 years (P2), had ABCD1 gene mutations (a large deletion from exon 6 in P1 and E609K mutation in P2), resulting in the absence of ALD protein detectable by immunocytochemistry in fibroblasts and white blood cells. Login to comment 30 ABCD1 p.Glu609Lys
X
ABCD1 p.Glu609Lys 19892975:30:123
status: NEW
view ABCD1 p.Glu609Lys details
 These two patients, aged 7.5 years (P1) and 7 years (P2), had ABCD1 gene mutations (a large deletion from exon 6 in P1 and E609K mutation in P2), resulting in the absence of ALD protein detectable by immunocytochemistry in fibroblasts and white blood cells. Login to comment