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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Detalles Bibliográficos
Autores principales: Matsukawa, Takashi, Asheuer, Muriel, Takahashi, Yuji, Goto, Jun, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Takano, Hiroki, Onodera, Osamu, Nishizawa, Masatoyo, Aubourg, Patrick, Tsuji, Shoji
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
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Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3029816/
https://www.ncbi.nlm.nih.gov/pubmed/20661612
http://dx.doi.org/10.1007/s10048-010-0253-6

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