Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/5200800.pdf
Reference10 articles.
1. Gibbons RJ, Brueton L, Buckle VJ et al. Clinical and hematologic aspects of the X-linked a-thalassemia/mental retardation syndrome (ATR-X) Am J Med Genet 1995a 55: 288–299
2. Guerrini R, Shanahana JL, Carrozzo R, Bonanni P, Higgs DR, Gibbons RJ . A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy Ann Neurol 2000 47: 117–121
3. Gibbons RJ, Picketts DJ, Villard L, Higgs D . Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome) Cell 1995b 80: 837–845
4. Villard L, Lossi AM, Cardoso C et al. Determination of the genomic structure of the XNP/ATR-X gene, encoding a potential zinc-finger helicase Genomics 1997 43: 149–155
5. McDowell TL, Gibbons RJ, Sutherland H et al. Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes Proc Natl Acad Sci USA 1999 96: 13983–13988
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