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Identification of a Nonsense Mutation in ALD Protein cDNA from a Patient with Adrenoleukodystrophy

✍ Scribed by A. Uchiyama; Y. Suzuki; X.Q. Song; T. Fukao; A. Imamura; S. Tomatsu; N. Shimozawa; N. Kondo; T. Orii


Book ID
115574127
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
291 KB
Volume
198
Category
Article
ISSN
0006-291X

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Identification of two new nonsense mutat
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Adrenoleukodystrophy ( ALD) is a X-linked peroxisomal disease with a highly variable phenotypic expression. While childhood cerebral ALD is the most severe and common form of the disease, adrenomyeloneuropathy (AMN) is a milder clinical form, that arises during adult life. Adrenal insufficiency (Add