Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

López-Bigas, N; Melchionda, S; de Cid, R; Grifa, A; Zelante, L; Govea, N; Arbonés, M L; Gasparini, P; Estivill, X

López-Bigas, N; Melchionda, S; de Cid, R; Grifa, A; Zelante, L; Govea, N; Arbonés, M L; Gasparini, P; Estivill, X.

Affiliation

López-Bigas N; Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, L'Hospitalet, Barcelona, Spain.

Hum Mutat ; 18(6): 548, 2001 Dec.

Article in En | MEDLINE | ID: mdl-11748854

Subject(s)

Carrier Proteins/genetics; Hearing Disorders/genetics; Membrane Transport Proteins; Alleles; DNA/chemistry; DNA/genetics; DNA Mutational Analysis; Family Health; Genotype; Goiter/complications; Goiter/genetics; Hearing Loss, Sensorineural/complications; Hearing Loss, Sensorineural/genetics; Humans; Italy; Mutation; Phenotype; Spain; Sulfate Transporters; Syndrome

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Collection: 01-internacional Database: MEDLINE Main subject: Membrane Transport Proteins / Carrier Proteins / Hearing Disorders Type of study: Diagnostic_studies Limits: Humans Country/Region as subject: Europa Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2001 Type: Article Affiliation country: Spain

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