Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations

Human Molecular Genetics

Volumn 8, Issue 2, 1999, Pages 165-172

  Hanson, Isabel ^a   Churchill, Amanda ^b   Love, James ^a   Axton, Richard ^a   Moore, Tony ^c   Clarke, Michael ^d   Meire, Francoise ^e   Van Heyningen, Veronica ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

^d ROYAL VICTORIA INFIRMARY   (United Kingdom)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ANIRIDIA; ARTICLE; CLINICAL ARTICLE; CONGENITAL NYSTAGMUS; EYE MALFORMATION; FEMALE; HOMEOBOX; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PUPIL DISEASE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIRIDIA; BINDING SITES; CATARACT; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; ECTOPIA LENTIS; EYE ABNORMALITIES; EYE PROTEINS; FAMILY HEALTH; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NYSTAGMUS, PATHOLOGIC; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID;

VERTEBRATA;

EID: 0032899711     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.2.165     Document Type: Article

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