PMID: 20810565

Hoftberger R, Kunze M, Voigtlander T, Unterberger U, Regelsberger G, Bauer J, Aboul-Enein F, Garzuly F, Forss-Petter S, Bernheimer H, Berger J, Budka H
Peroxisomal localization of the proopiomelanocortin-derived peptides beta-lipotropin and beta-endorphin.
Endocrinology. 2010 Oct;151(10):4801-10. Epub 2010 Sep 1., [PubMed]
Sentences
No. Mutations Sentence Comment
25 ABCD1 p.Pro560Leu
X
ABCD1 p.Pro560Leu 20810565:25:141
status: NEW
view ABCD1 p.Pro560Leu details
 Both patients were diagnosed by elevated VLCFA in plasma; in addition, genetic analysis was performed in one patient (ALD-7 1679, CϾT, P560L). Login to comment