RP1 protein truncating mutations predominate at the RP1 adRP locus

Investigative Ophthalmology and Visual Science

Volumn 41, Issue 13, 2000, Pages 4069-4073

  Payne, A ^a   Vithana, E ^a   Khaliq, S ^a   Hameed, A ^a   Deller, J ^a   Abu Safieh, L ^a   Kermani, S ^a   Leroy, B P ^a   Mehdi, S Q ^a   Moore, A T ^a   Bird, A C ^a   Bhattacharya, S S ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 8; CODON; ETHNOLOGY; EXON; GENE DELETION; GENE FUNCTION; GENE INSERTION; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC LINKAGE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EYE PROTEINS; HAPLOTYPES; HETERODUPLEX ANALYSIS; HUMANS; LINKAGE (GENETICS); LOD SCORE; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA;

EID: 0033646553     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

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5. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription factor gene
6. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
7. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa
8. Mutations in a novel retinal-specific gene cause the RP1 form of autosomal dominant pigmentosa
9. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8
10. Possible assignment of dominant retinitis pigmentosa gene to chromosome 8
11. Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa
12. Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285
13. Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependant signaling protein which is mutated in human X-linked neuronal migration defects
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15. An analysis of ABCR mutations in British patients with recessive retinal dystrophies
16. Rapid determination of single base pair mismatches as heteroduplexes on Hydrolink gels
17. Mutations in the RP1 gene causing dominant retinitis pigmentosa
18. Double mutant alleles: Are they rare?