Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families

Investigative Ophthalmology and Visual Science

Volumn 46, Issue 7, 2005, Pages 2264-2270

  Riazuddin, S Amer ^a,b   Zulfiqar, Fareeha ^b   Zhang, Qingjiong ^a   Sergeev, Yuri V ^a   Qazi, Zaheeruddin A ^b   Husnain, Tayyab ^b   Caruso, Rafael ^a   Riazuddin, Sheikh ^b   Sieving, Paul A ^a   Hejtmancik, J Fielding ^a  

^a NATIONAL EYE INSTITUTE   (United States)

^b UNIVERSITY OF THE PUNJAB   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; EYE PROTEIN; MICROSATELLITE DNA; RP1 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONSANGUINITY; FAMILY; GENE; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PAKISTAN; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RP1 GENE; CHROMOSOME 8; ELECTRORETINOGRAPHY; ETHNOLOGY; FEMALE; FRAMESHIFT MUTATION; GENETIC LINKAGE; GENETIC SCREENING; GENETICS; MALE; PATHOLOGY; PEDIGREE; POLYMERASE CHAIN REACTION; RECESSIVE GENE; STOP CODON;

CHROMOSOMES, HUMAN, PAIR 8; CODON, NONSENSE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENETIC SCREENING; GENOTYPE; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MICROSATELLITE REPEATS; PAKISTAN; PEDIGREE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA;

EID: 23244442757     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.04-1280     Document Type: Article

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