A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia

Chinese Journal of Medical Genetics

Volumn 25, Issue 2, 2008, Pages 172-175

  Kang, Yang ^a   Yuan, Hui Ping ^a   Li, Yuan Yuan ^a  

^a HARBIN MEDICAL UNIVERSITY   (China)

Author keywords

Aniridia; In frame deletion; PAX6 gene

Indexed keywords

AMINO ACID DERIVATIVE; ASPARTIC ACID; GENOMIC DNA; ISOLEUCINE; SERINE; TRANSCRIPTION FACTOR PAX6;

ANIRIDIA; ARTICLE; CASE REPORT; CHINESE; CONTROLLED STUDY; DNA SEQUENCE; EXON; EYE EXAMINATION; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HUMAN; LEUKOCYTE; PAX6 GENE; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ANIRIDIA; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS;

EID: 42249100521     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

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