Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family

Ophthalmic Genetics

Volumn 21, Issue 4, 2000, Pages 251-256

  Trujillo, M J ^a   Garcia Sandoval, B ^a   Lorda Sanchez, I ^a   Gimenez, A ^a   Sanz, R ^a   Rodriguez de Alba, M ^a   Gonzalez Gonzalez, M C ^a   Ibanez A ^a   Ramos, C ^a   Ayuso, C ^a  

^a Hospital UniversitarioFundación Jiménez Díaz   (Spain)

Author keywords

Autosomal dominant retinitis pigmentosa; Genotype phenotype correlation; Rhodopsin mutations

Indexed keywords

RHODOPSIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; ELECTRORETINOGRAPHY; FEMALE; GENE MUTATION; HUMAN; MALE; NIGHT BLINDNESS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; VISUAL ACUITY;

ADULT; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FUNDUS OCULI; GENES, DOMINANT; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROLINE; RETINITIS PIGMENTOSA; RHODOPSIN; SERINE; SPAIN; VISUAL FIELDS;

EID: 17744364260     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/1381-6810(200012)21:4;1-H;FT251     Document Type: Article

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