Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q

Nature Genetics

Volumn 25, Issue 1, 2000, Pages 15-17

  Berry, Vanita ^a   Francis, Peter ^a,b   Kaushal, Shalesh ^a   Moore, Anthony ^b,c   Bhattacharya, Shomi ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN; CRYSTALLIN;

ARTICLE; CATARACT; CHROMOSOME 12Q; CONGENITAL CATARACT; EYE DEVELOPMENT; GENE MUTATION; GENETIC LINKAGE; HUMAN; MISSENSE MUTATION; NONHUMAN; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; VISUAL IMPAIRMENT;

ADULT; AMINO ACID SEQUENCE; AQUAPORINS; CATARACT; CHILD; CHROMOSOMES, HUMAN, PAIR 12; EYE PROTEINS; FEMALE; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE;

EID: 0034118380     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/75538     Document Type: Article

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