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X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

✍ Scribed by Ying Wang; Rachel Busin; Catherine Reeves; Lena Bezman; Gerald Raymond; Cicely J. Toomer; Paul A. Watkins; Ann Snowden; Ann Moser; Sakkubai Naidu; Genila Bibat; Stacy Hewson; Karen Tam; Joe T.R. Clarke; Lawrence Charnas; Gail Stetten; Barbara Karczeski; Garry Cutting; Steven Steinberg

Book ID
116989361
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
821 KB
Volume
104
Category
Article
ISSN
1096-7192

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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

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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