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