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Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy

✍ Scribed by T. Matsumoto; A. Tsuru; N. Amamoto; T. Shimizu; T. Kondoh; N. Saitoh; T. Tsujii; K. Tamagawa


Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
191 KB
Volume
48
Category
Article
ISSN
1435-232X

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πŸ“œ SIMILAR VOLUMES


X-linked adrenoleukodystrophy with parti
✍ Tadashi Matsumoto; Noriko Miyake; Yoshiaki Watanabe; Gaku Yamanaka; Shingo Oana; πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 161 KB

X-linked adrenoleukodystrophy (X-ALD) is a congenital peroxysomal disorder caused by mutations in the ALD protein gene (ALD or ABCD1) located to Xq28 [Mosser et al., 1993]. Its phenotype is variable, ranging from the severe childhood cerebral form that is associated with rapidly progressive demyelin

Detection of mutations in the ALD gene (
✍ M. Gomez Lira; M. Mottes; P.F. Pignatti; I. Medica; G. Uziel; M. Cappa; E. Berti πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 57 KB πŸ‘ 2 views

The study describes the mutations causing adrenoleukodystrophy in seven Italian families. Four missense mutations leading to amino acid substitutions, two frameshift mutations leading to a premature termination signal, and a splicing mutation were identified. Mutations 2014C> >T (P543L), 2053A> >G (