Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations

Molecular Vision

Volumn 19, Issue , 2013, Pages 2487-2500

  Bocquet, Béatrice ^a,b   Marzouka, Nour Al Dain ^a,b   Hebrard, Maxime ^a,b   Manes, Gaël ^a,b   Sénéchal, Audrey ^a,b   Meunier, Isabelle ^a,b,c   Hamel, Christian P ^a,b,c  

^a Montpellier University Medical Center   (France)

^b UNIV MONTPELLIER   (France)

^c MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOFLUORESCENCE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA; C2ORF71 GENE; CNGB1 GENE; DISEASE SEVERITY; ELECTRORETINOGRAM; EYE EXAMINATION; EYE FUNDUS; FAMILY; FEMALE; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HOMOZYGOSITY; HUMAN; IMPG2 GENE; MAJOR CLINICAL STUDY; MALE; NR2E3 GENE; OPTICAL COHERENCE TOMOGRAPHY; PDE6A GENE; PDE6B GENE; PERIMETRY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RLBP1 GENE; RP1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; CONSANGUINITY; EXONS; EYE PROTEINS; FEMALE; GENES, RECESSIVE; GENOTYPING TECHNIQUES; HOMOZYGOTE; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX;

EID: 84889667090     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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