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: Barbier, Mathieu, Sabbagh, Audrey, Kasper, Edwige, Asheuer, Muriel, Ahouansou, Ornella, Pribill, Ingrid, Forss-Petter, Sonja, Vidaud, Michel, Berger, Johannes, Aubourg, Patrick
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2012
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3257241/
https://ncbi.nlm.nih.gov/pubmed/22253809
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0029872
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