ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy
β Scribed by Niu, Yan-Fang; Ni, Wang; Wu, Zhi-Ying
- Book ID
- 122353382
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 413 KB
- Volume
- 522
- Category
- Article
- ISSN
- 0378-1119
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## Communicated by Jan Kraus X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, which encodes a peroxisomal ABC half-transporter (ALDP) involved in the import of very long-chain fatty acids (VLCFA) into the peroxisome. The disease is characterized by a striking and unp
We report the molecular findings in 14 patients (12 families) with X-linked adrenoleukodystrophy (X-ALD, MIM# 300100), a well-defined peroxisomal disorder attributed to mutations in the ABCD1 gene on chromosome Xq28. With the aims of determining the spectrum of mutations and developing an efficient