Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: Efficient mutation detection in Bardet-Biedl and Alström Syndromes

Journal of Medical Genetics

Volumn 49, Issue 8, 2012, Pages 502-512

  Redin, Claire ^a   Le Gras, Stéphanie ^b   Mhamdi, Oussema ^c   Geoffroy, Véronique ^b   Stoetzel, Corinne ^a   Vincent, Marie Claire ^d   Chiurazzi, Pietro ^e   Lacombe, Didier ^f   Ouertani, Ines ^c   Petit, Florence ^g   Till, Marianne ^h   Verloes, Alain ⁱ   Jost, Bernard ^b   Chaabouni, Habiba Bouhamed ^c   Dollfus, Helene ^a,d   Mandel, Jean Louis ^a,d,j   Muller, Jean ^a,d  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^c UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^d UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^e CATHOLIC UNIVERSITY   (Italy)

^f UNIVERSITÉ DE BORDEAUX   (France)

^g LILLE UNIVERSITY HOSPITAL   (France)

^h HOSPICES CIVILS DE LYON   (France)

ⁱ HÔPITAL ROBERT DEBRÉ   (France)

^j l'alimentation et l'Environnement   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALG42 GENE; ALMS1 GENE; ALSTROM SYNDROME; ARTICLE; BARDET BIEDL SYNDROME; BBS1 GENE; BBS10 GENE; BBS12 GENE; BBS4 GENE; CCDC28B GENE; CLINICAL FEATURE; EXON; GENE; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE TARGETING; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HIGH THROUGHPUT SEQUENCING; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; NPHP3 GENE; PRIORITY JOURNAL; RELIABILITY;

ALSTROM SYNDROME; BARDET-BIEDL SYNDROME; CELL CYCLE PROTEINS; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, INBORN; GENETIC HETEROGENEITY; GENETIC TESTING; GENOME, HUMAN; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; PROTEINS; REPRODUCIBILITY OF RESULTS; SEQUENCE DELETION;

EID: 84866319128     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-100875     Document Type: Article

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