Identification of two new nonsense mutations (Q311X and W326X) in Exon 2 of the adrenoleukodystrophy (ALD) gene.

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作者信息

Barceló A, Girós M, Albiach V J, Vaquerizo J, Pàmpols T, Estivill X

机构信息

Servei de Genètica, Hospital Clínic, Barcelona, Spain.

出版信息

Hum Mutat. 1996;8(3):286-7. doi: 10.1002/(SICI)1098-1004(1996)8:3<286::AID-HUMU17>3.0.CO;2-Z.

DOI:10.1002/(SICI)1098-1004(1996)8:3<286::AID-HUMU17>3.0.CO;2-Z

PMID:8889593

Abstract

摘要

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引用本文的文献

X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.

Neurochem Res. 1999 Apr;24(4):521-35. doi: 10.1023/a:1022535930009.

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