Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: Phenotypic variation in both heterozygote and homozygote Val137Met mutant patients

Human Genetics

Volumn 98, Issue 1, 1996, Pages 51-54

  Ayuso, Carmen ^a   Trujillo, María José ^a   Robledo, Mercedes ^a   Ramos, Carmen ^a   Benitez, Javier ^a   Martín Osés, Félix ^b   Del Rio, Teresa ^b   García Sandoval, Blanca ^b  

^a Clínica Nuestra Señora de la Concepción   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; RHODOPSIN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

BASE SEQUENCE; CATARACT; DNA PRIMERS; EXONS; FEMALE; GENES, DOMINANT; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINITIS PIGMENTOSA; RHODOPSIN; SEQUENCE ANALYSIS; VISUAL ACUITY;

EID: 0029953583     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050158     Document Type: Article

References (8)

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