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Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.
Pera, Alejandra; Dossena, Silvia; Rodighiero, Simona; Gandía, Marta; Bottà, Guido; Meyer, Giuliano; Moreno, Felipe; Nofziger, Charity; Hernández-Chico, Concepción; Paulmichl, Markus.
Affiliation
  • Pera A; Unidad de Genética Molecular, Hospital Ramón y Cajal, Centro de Investigación Biomédica de Enfermedades Raras, ISCIII, 28034 Madrid, Spain.
Proc Natl Acad Sci U S A ; 105(47): 18608-13, 2008 Nov 25.
Article in En | MEDLINE | ID: mdl-19017801
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Transport Proteins / Vestibular Aqueduct / Alleles / Hearing Loss, Sensorineural / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Animals / Humans Language: En Journal: Proc Natl Acad Sci U S A Year: 2008 Type: Article Affiliation country: Spain
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Transport Proteins / Vestibular Aqueduct / Alleles / Hearing Loss, Sensorineural / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Animals / Humans Language: En Journal: Proc Natl Acad Sci U S A Year: 2008 Type: Article Affiliation country: Spain