Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families

European Journal of Human Genetics

Volumn 19, Issue 12, 2011, Pages 1256-1263

  Hebrard, Maxime ^a,b   Manes, Gaël ^a,b   Bocquet, Béatrice ^a,b   Meunier, Isabelle ^c   Coustes Chazalette, Delphine ^c   Hérald, Emilie ^c   Sénéchal, Audrey ^a,b   Bolland Augé, Anne ^d   Zelenika, Diana ^d   Hamel, Christian P ^a,b,c  

^a HÔPITAL SAINT ELOI   (France)

^b UNIV MONTPELLIER   (France)

^c MONTPELLIER UNIVERSITY HOSPITAL   (France)

^d CENTRE NATIONAL DE GÉNOTYPAGE   (France)

Author keywords

autosomal recessive inheritance; gene mapping; non consanguineous families; phenotype characterization; retinitis pigmentosa

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME; CLINICAL ARTICLE; CONSANGUINITY; FAMILY; FEMALE; GENE MAPPING; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MICROCHIP ANALYSIS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; FEMALE; FUNDUS OCULI; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA;

EID: 81455158946     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.133     Document Type: Article

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