A large deletion in the adRP gene PRPF31: Evidence that haploinsufficiency is the cause of disease

Molecular Vision

Volumn 12, Issue , 2006, Pages 384-388

  Abu Safieh, Leen ^a   Vithana, Eranga N ^b   Mantel, Irmela ^c   Holder, Graham E ^c   Pelosini, Lucia ^c   Bird, Alan C ^c   Bhattacharya, Shomi S ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b SINGAPORE EYE RESEARCH INSTITUTE   (Singapore)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADIPOPHILIN; CELL RECEPTOR; NUCLEOTIDE; PROTEIN PRPF31; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC RECOMBINATION; GENETIC SCREENING; HAPLOTYPE; HETEROZYGOSITY; HUMAN; MICROSATELLITE MARKER; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FAMILY; PROTEIN FUNCTION; RETINITIS PIGMENTOSA; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; ELECTRON TRANSPORT COMPLEX I; EYE PROTEINS; FEMALE; GENE DELETION; GENES, DOMINANT; HAPLOTYPES; HUMANS; LOSS OF HETEROZYGOSITY; MALE; MICROSATELLITE REPEATS; NADH DEHYDROGENASE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); RECEPTORS, CELL SURFACE; RETINITIS PIGMENTOSA;

EID: 33645808262     PISSN: 10900535     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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