A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye-Reference-Cited by-同舟云学术

A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye

Published:2001-02 Issue:2 Volume:68 Page:364-372
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Nishimura Darryl Y.,Searby Charles C.,Alward Wallace L.,Walton David,Craig Jamie E.,Mackey David A.,Kawase Kazuhide,Kanis Adam B.,Patil Shivanand R.,Stone Edwin M.,Sheffield Val C.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference21 articles.

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3. The two-exon gene of the human forkhead transcription factor FREAC-2 (FKHL6) is located at 6p25.3;Blixt;Genomics,1998

4. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations;Fingert;Hum Mol Genet,1999

5. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects;Glaser;Nat Genet,1994

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