Two nonsense mutations of PAX6 in two Japanese aniridia families: Case report and review of the literature

European Journal of Ophthalmology

Volumn 10, Issue 2, 2000, Pages 167-172

  Kondo Saitoh, A ^b   Matsumoto, N ^a   Sasaki, T ^a   Egashira, M ^a   Saitoh, A ^b   Yamada, K ^b   Niikawa, N ^a   Amemiya, T ^b  

^a NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NONE

Author keywords

Aniridia; Hot spot of mutation; PAX6; Transition mutation

Indexed keywords

ADULT; AGED; AMINO ACID SUBSTITUTION; ANIRIDIA; ARTICLE; DISEASE PREDISPOSITION; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0033921464     PISSN: 11206721     EISSN: None     Source Type: Journal    
DOI: 10.1177/112067210001000213     Document Type: Article

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