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A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss.
Aburayyan, Amal; Carlson, Ryan J; Rabie, Grace N; Lee, Ming K; Gulsuner, Suleyman; Walsh, Tom; Avraham, Karen B; Kanaan, Moien N; King, Mary-Claire.
Afiliação
  • Aburayyan A; Department of Genome Sciences and Department of Medicine, University of Washington, Seattle, WA, USA.
  • Carlson RJ; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
  • Rabie GN; Hereditary Research Laboratory, Department of Biology, Bethlehem University, Bethlehem, Palestine.
  • Lee MK; Department of Genome Sciences and Department of Medicine, University of Washington, Seattle, WA, USA.
  • Gulsuner S; Hereditary Research Laboratory, Department of Biology, Bethlehem University, Bethlehem, Palestine.
  • Walsh T; Department of Genome Sciences and Department of Medicine, University of Washington, Seattle, WA, USA.
  • Avraham KB; Department of Genome Sciences and Department of Medicine, University of Washington, Seattle, WA, USA.
  • Kanaan MN; Department of Genome Sciences and Department of Medicine, University of Washington, Seattle, WA, USA.
  • King MC; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
Hum Mol Genet ; 32(14): 2265-2268, 2023 07 04.
Article em En | MEDLINE | ID: mdl-37074134
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Biossíntese de Proteínas / Perda Auditiva Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Biossíntese de Proteínas / Perda Auditiva Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article