Molecular Features of SLC26A4 Common Variant p.L117F.

Matulevicius, Arnoldas; Bernardinelli, Emanuele; Brownstein, Zippora; Roesch, Sebastian; Avraham, Karen B; Dossena, Silvia

Matulevicius, Arnoldas; Bernardinelli, Emanuele; Brownstein, Zippora; Roesch, Sebastian; Avraham, Karen B; Dossena, Silvia.

Afiliação

Matulevicius A; Institute of Pharmacology and Toxicology, Paracelsus Medical University, 5020 Salzburg, Austria.
Bernardinelli E; Institute of Pharmacology and Toxicology, Paracelsus Medical University, 5020 Salzburg, Austria.
Brownstein Z; Department of Human Molecular Genetics & Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv 6997801, Israel.
Roesch S; Department of Otorhinolaryngology, Head and Neck Surgery, Paracelsus Medical University, 5020 Salzburg, Austria.
Avraham KB; Department of Human Molecular Genetics & Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv 6997801, Israel.
Dossena S; Institute of Pharmacology and Toxicology, Paracelsus Medical University, 5020 Salzburg, Austria.

J Clin Med ; 11(19)2022 Sep 22.

Article em En | MEDLINE | ID: mdl-36233414

Palavras-chave

DFNB4; Pendred syndrome; SLC26A4; functional testing; hearing loss; pendrin

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: J Clin Med Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Áustria

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