A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family

Experimental Eye Research

Volumn 104, Issue , 2012, Pages 82-88

  Saini, Seema ^a   Robinson, Peter N ^b   Singh, Jai Rup ^c   Vanita, Vanita ^a  

^a GURU NANAK DEV UNIVERSITY   (India)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c CENTRAL UNIVERSITY OF PUNJAB   (India)

Author keywords

Autosomal dominant retinitis pigmentosa; Haplotype analysis; Linkage analysis; Mutation screening; PRPF31; RP11 locus

Indexed keywords

MESSENGER RNA PRECURSOR; PRE MRNA PROCESSING FACTOR 31; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHROMOSOME 19Q; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILY HISTORY; FEMALE; GENE DELETION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HAPLOTYPE; HUMAN; INDIA; INTRON; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SCHOOL CHILD; VISUAL ACUITY;

ADOLESCENT; ADULT; BASE PAIRING; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 19; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HUMANS; LOD SCORE; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; RETINITIS PIGMENTOSA; SEQUENCE DELETION; YOUNG ADULT;

EID: 84867744189     PISSN: 00144835     EISSN: 10960007     Source Type: Journal    
DOI: 10.1016/j.exer.2012.09.010     Document Type: Article

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