Autosomal dominant aniridia: Probable linkage to acid phosphatase-1 locus on chromosome 2

R. E. Ferrell, A. Chakravarti, H. M. Hittner, V. M. Riccardi

Research output: Contribution to journalArticlepeer-review

41 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1580-1582
Number of pages3
JournalProceedings of the National Academy of Sciences of the United States of America
Volume77
Issue number3 I
DOIs
StatePublished - 1980
Externally publishedYes

ASJC Scopus subject areas

  • General

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