Open AccessThree novel PAX6 mutations in patients with aniridia
Author(s) -
Walter Zumkeller,
U. Orth,
Asaf Gal
Publication year - 2003
Publication title -
molecular pathology
Language(s) - English
Resource type - Journals
eISSN - 1472-4154
pISSN - 1366-8714
DOI - 10.1136/mp.56.3.180
Subject(s) - aniridia , pax6 , exon , haploinsufficiency , genetics , mutation , nonsense mutation , biology , gene , microbiology and biotechnology , missense mutation , phenotype , transcription factor
To describe mutations in the PAX6 gene in five patients with aniridia from three unrelated families.