Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa

Human Mutation

Volumn 32, Issue 6, 2011, Pages

  Benaglio, Paola ^a   Mcgee, Terri L ^b   Capelli, Leonardo P ^a,c   Harper, Shyana ^b   Berson, Eliot L ^b   Rivolta, Carlo ^a  

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Next generation sequencing; Retinitis pigmentosa; Sample pooling; SNRNP200

Indexed keywords

COHORT ANALYSIS; CONTROLLED STUDY; DNA DETERMINATION; EXON; GENE; GENE SEQUENCE; GENETIC SCREENING; GENOME ANALYSIS; HEALTH CARE COST; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NORTH AMERICA; NOTE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; SNRNP200 GENE;

AMINO ACID SEQUENCE; CHINA; CODON; EXONS; GENES, DOMINANT; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; RETINITIS PIGMENTOSA; RIBONUCLEOPROTEINS, SMALL NUCLEAR; SEQUENCE ANALYSIS, DNA;

EID: 79957582993     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21485     Document Type: Note

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