A rare homozygous rhodopsin splice-site mutation: The issue of when and whether to offer presymptomatic testing

Ophthalmic Genetics

Volumn 24, Issue 4, 2003, Pages 225-232

  Greenberg, J ^a   Roberts, L ^a   Ramesar, R ^a  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

Ethics; Genetic counselling; Presymptomatic testing; Rhodopsin

Indexed keywords

RHODOPSIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DNA SEQUENCE; EXON; GENE IDENTIFICATION; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; GENOME ANALYSIS; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; PEDIGREE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SIBLING; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0344586932     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.24.4.225.17235     Document Type: Article

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