A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 9, 2011, Pages 6597-6603

  Rose, Anna M ^a   Mukhopadhyay, Rajarshi ^b   Webster, Andrew R ^b   Bhattacharya, Shomi S ^a   Waseem, Naushin H ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 19Q; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; GENE; HUMAN; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PRPF31 GENE; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; AGED; CHROMOSOME 19; DOMINANT GENE; FEMALE; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEIC ACID AMPLIFICATION; NUCLEOTIDE SEQUENCE;

EYE PROTEIN; IMMUNOGLOBULIN RECEPTOR; PRPF31 PROTEIN, HUMAN; SIRL1 PROTEIN, HUMAN;

ADULT; AGED; BASE SEQUENCE; CHROMOSOME BREAKPOINTS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 19; EXONS; EYE PROTEINS; FEMALE; GENES, DOMINANT; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, IMMUNOLOGIC; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA;

EID: 80054792075     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-7861     Document Type: Article

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