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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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Main Authors: | , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Springer-Verlag
2010
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Assuntos: | |
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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