Investigation of crystallin genes in familial cataract, and report of two disease associated mutations

British Journal of Ophthalmology

Volumn 88, Issue 1, 2004, Pages 79-83

  Burdon, K P ^b   Wirth, M G ^c   Mackey, D A ^d   Russell Eggitt, I M ^e   Craig, J E ^f   Elder, J E ^g   Dickinson, J L ^b   Sale, M M ^a,b  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF TASMANIA   (Australia)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f FLINDERS UNIVERSITY   (Australia)

^g ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CRYSTALLIN; GAMMA CRYSTALLIN;

ARTICLE; AUSTRALIA; AUTOSOMAL DOMINANT DISORDER; CATARACT; DISEASE ASSOCIATION; ELECTROPHORESIS; FAMILIAL DISEASE; FAMILY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; HUMAN CELL; INTRON; PEDIGREE; PREDICTION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SINGLE STRAND CONFORMATION POLYMORPHISM;

CATARACT; CHILD; CRYSTALLINS; EYE DISEASES, HEREDITARY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOD SCORE; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0347755354     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.88.1.79     Document Type: Article

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