CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy.

X-linked adrenoleukodystrophy (X-ALD) is characterized by marked phenotypic variation ranging from adrenomyeloneuropathy (AMN) to childhood cerebral ALD (CCALD). X-ALD is caused by mutations in the ABCD1 gene, but no genotype-phenotype correlation has been established so far and modifier gene varian...

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Autori principali:	Mathieu Barbier, Audrey Sabbagh, Edwige Kasper, Muriel Asheuer, Ornella Ahouansou, Ingrid Pribill, Sonja Forss-Petter, Michel Vidaud, Johannes Berger, Patrick Aubourg
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Public Library of Science (PLoS) 2012-01-01
Serie:	PLoS ONE
Accesso online:	http://europepmc.org/articles/PMC3257241?pdf=render
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