PAX6 missense mutation in isolated foveal hypoplasia

Nature Genetics

Volumn 13, Issue 2, 1996, Pages 141-142

  Azuma, Noriyuki ^a   Nishina, Sachiko ^a   Yanagisawa, Hiroko ^b   Okuyama, Torayuki ^b   Yamada, Masao ^b  

^a National Children's Hospital   (Philippines)

^b NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; EYE PROTEIN; HOMEODOMAIN PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; REPRESSOR PROTEIN; TRANSCRIPTION FACTOR PAX6;

AMINO ACID SEQUENCE; CONGENITAL MALFORMATION; EYE MALFORMATION; FEMALE; GENETICS; HUMAN; LETTER; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RETINA FOVEA;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA-BINDING PROTEINS; EYE ABNORMALITIES; EYE PROTEINS; FEMALE; FOVEA CENTRALIS; HOMEODOMAIN PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; REPRESSOR PROTEINS;

EID: 0030162151     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0696-141     Document Type: Article

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