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  • 标题:Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2
  • 本地全文:下载
  • 作者:R E Ferrell ; A Chakravarti ; H M Hittner
  • 期刊名称:Proceedings of the National Academy of Sciences
  • 印刷版ISSN:0027-8424
  • 电子版ISSN:1091-6490
  • 出版年度:1980
  • 卷号:77
  • 期号:3
  • 页码:1580-1582
  • DOI:10.1073/pnas.77.3.1580
  • 语种:English
  • 出版社:The National Academy of Sciences of the United States of America
  • 摘要:Maximum likelihood analysis for linkage between autosomal dominant aniridia and 12 biochemical and serological markers in a single large family showed a probable linkage between autosomal dominant aniridia and the enzyme acid phosphatase-1. The presence of an autosomal dominant aniridia gene linked to acid phosphatase-1 on chromosome arm 2p and the existence of an aniridia syndrome resulting from deletion of band 13 of the short arm of chromosome 11 establishes a chromosome basis for genetic heterogeneity of aniridia phenotypes.
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