Adrenoleukodystrophy (ALD) is a peroxisomal disorder that commonly manifests as demyelination of the central nervous system (CNS). The isolation of the ALD gene by positional cloning has led to the identification of a variety of mutations in the ALD gene. One hundred and ten mutations have been iden
Two intronic mutations in the adrenoleukodystrophy gene
✍ Scribed by Stephan Kemp; Marjolijn J. L. Ligtenberg; Björn M. van Geel; Peter G. Barth; Claude-Olivier Sarde; Bernard A. van Oost; Pieter A. Bolhuis
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 168 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1059-7794
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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
Communicated by Mark H. Paalman L1 disease is a clinically heterogeneous X-chromosomal neurodevelopmental disorder that is frequently associated with mental retardation and congenital hydrocephalus in males. It is caused by mutations in L1CAM that encodes a multifunctional transmembrane neuronal cel