Homozygous and heterozygous Gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

Ophthalmic Genetics

Volumn 21, Issue 2, 2000, Pages 79-87

  Reig, Carlos ^a   Trujillo, M José ^b   Martinez Gimeno, Maria ^a   Garcia Sandoval, Blanca ^b   Calvo, M Teresa ^c   Ayuso, Carmen ^b   Carballo, Miguel ^a  

^a HOSPITAL DE TERRASSA   (Spain)

^b Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^c HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

Author keywords

Mutation; Phenotype genotype; Retinitis pigmentosa; Rhodopsin

Indexed keywords

DNA; RHODOPSIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; FAMILY STUDY; FEMALE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

EID: 0033897671     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/1381-6810(200006)21:2;1-8;ft079     Document Type: Article

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