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Run‐on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia
Author(s) -
Baum Larry,
Pang C.P.,
Fan Dorothy S.P.,
Poon Priscilla M.K.,
Leung Y.F.,
Chua John K.H.,
Lam Dennis S.C.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)14:3<272::aid-humu21>3.0.co;2-v
Subject(s) - aniridia , pax6 , ophthalmology , nonsense mutation , medicine , optometry , history , mutation , genetics , biology , gene , missense mutation , transcription factor