Article
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Molecular genetics and metabolism - 1 Jan 2000
Wang Ying, Busin Rachel, Reeves Catherine, Bezman Lena, Raymond Gerald, Toomer Cicely J, Watkins Paul A, Snowden Ann, Moser Ann, Naidu Sakkubai, Bibat Genila, Hewson Stacy, Tam Karen, Clarke Joe T R, Charnas Lawrence, Stetten Gail, Karczeski Barbara, Cutting Garry, Steinberg Steven
Abstract excerpt
X-linked adrenoleukodystrophy (X-ALD) is a progressive peroxisomal disorder affecting adrenal glands, testes and myelin stability that is caused by mutations in the ABCD1 (NM_000033) gene. Males with X-ALD may be diagnosed by the demonstration of elevated very long chain fatty acid (VLCFA) levels in plasma. In contrast, only 80% of female carriers have elevated plasma VLCFA; therefore targeted mutation analysis...
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