Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

Brownstein, Zippora; Abu-Rayyan, Amal; Karfunkel-Doron, Daphne; Sirigu, Serena; Davidov, Bella; Shohat, Mordechai; Frydman, Moshe; Houdusse, Anne; Kanaan, Moien; Avraham, Karen B

Brownstein, Zippora; Abu-Rayyan, Amal; Karfunkel-Doron, Daphne; Sirigu, Serena; Davidov, Bella; Shohat, Mordechai; Frydman, Moshe; Houdusse, Anne; Kanaan, Moien; Avraham, Karen B.

Afiliação

Brownstein Z; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Abu-Rayyan A; Department of Biological Sciences, Bethlehem University, Bethlehem, Palestine.
Karfunkel-Doron D; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Sirigu S; Structural Motility, Institut Curie, UMR 144, CNRS, Paris, France.
Davidov B; Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.
Shohat M; 1] Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel [2] Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.
Frydman M; 1] Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel [2] Danek Gartner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.
Houdusse A; Structural Motility, Institut Curie, UMR 144, CNRS, Paris, France.
Kanaan M; Department of Biological Sciences, Bethlehem University, Bethlehem, Palestine.
Avraham KB; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Eur J Hum Genet ; 22(6): 768-75, 2014 Jun.

Article em En | MEDLINE | ID: mdl-24105371

Assuntos

Predisposição Genética para Doença/genética; Perda Auditiva/genética; Sequenciamento de Nucleotídeos em Larga Escala/métodos; Mutação; Cadeias Pesadas de Miosina/genética; Miosinas/genética; Árabes/genética; Sequência de Bases; Saúde da Família; Feminino; Genômica/métodos; Humanos; Israel; Judeus/genética; Masculino; Miosina VIIa; Linhagem; Fenótipo

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miosinas / Cadeias Pesadas de Miosina / Predisposição Genética para Doença / Sequenciamento de Nucleotídeos em Larga Escala / Perda Auditiva / Mutação Idioma: En Ano de publicação: 2014 Tipo de documento: Article

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