Article
X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.
Molecular genetics and metabolism - 1 Nov 2017
Curiel Julian, Steinberg Steven Jeffrey, Bright Sarah, Snowden Ann, Moser Ann B, Eichler Florian, Dubbs Holly A, Hacia Joseph G, Ely John J, Bezner Jocelyn, Gean Alisa, Vanderver Adeline
Abstract excerpt
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder leading to the accumulation of very long chain fatty acids (VLCFA) due to a mutation in the ABCD1 gene. ABCD1 mutations lead to a variety of phenotypes, including cerebral X-ALD and adrenomyeloneuropathy (AMN) in affected males and 80% of carrier females. There is no definite genotype-phenotype correlation with intrafamilial variability....
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