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Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes

Adrenoleukodystrophy (ALD) is an X-linked disorder affecting primarily the white matter of the central nervous system occasionally accompanied by adrenal insufficiency. Despite the discovery of the causative gene, ABCD1, no clear genotype–phenotype correlations have been established. Association stu...

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Detalhes bibliográficos
Main Authors: Matsukawa, Takashi, Asheuer, Muriel, Takahashi, Yuji, Goto, Jun, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Takano, Hiroki, Onodera, Osamu, Nishizawa, Masatoyo, Aubourg, Patrick, Tsuji, Shoji
Formato: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2010
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3029816/
https://ncbi.nlm.nih.gov/pubmed/20661612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-010-0253-6
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