Two Indian Siblings with oguchi disease are homozygous for an arrestin mutation encoding premature termination

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Maw, Marion ^a   Kumaramanickavel, Govindasamy ^a   Kar, Bibhas ^b   John, Sheila ^a   Bridges, Robyn ^a   Denton, Michael ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b VISION RESEARCH FOUNDATION   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; RETINA S ANTIGEN; DNA;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; GENE MUTATION; HOMOZYGOSITY; HUMAN; INDIA; MALE; NIGHT BLINDNESS; PRIORITY JOURNAL; SIBLING; STOP CODON; ADOLESCENT; CHEMISTRY; FAMILY HEALTH; FEMALE; GENETICS; HOMOZYGOTE; MUTATION; NUCLEAR FAMILY; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; ARRESTIN; BASE SEQUENCE; CODON, TERMINATOR; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HOMOZYGOTE; HUMANS; INDIA; MALE; MUTATION; NIGHT BLINDNESS; NUCLEAR FAMILY; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0031964983     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110199     Document Type: Article

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