Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the <i>WHRN</i> and <i>TMC1</i> genes.

Olsson, K Sigvard; Wålinder, Olof; Jansson, Ulf; Wilbe, Maria; Bondeson, Marie-Louise; Stattin, Eva-Lena; Raha-Chowdhury, Ruma; Williams, Roger

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.

Olsson, K Sigvard; Wålinder, Olof; Jansson, Ulf; Wilbe, Maria; Bondeson, Marie-Louise; Stattin, Eva-Lena; Raha-Chowdhury, Ruma; Williams, Roger.

Afiliación

Olsson KS; Section of Hematology and Coagulation, Department of Medicine, Sahlgrenska Academy, University of Göteborg, S 413 45 Göteborg, Sweden.
Wålinder O; Department of Medicine, Östersund Hospital, Östersund, Sweden.
Jansson U; Department of Clinical Chemistry, Sundsvall Hospital, Sundsvall, Sweden.
Wilbe M; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Bondeson ML; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Stattin EL; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Raha-Chowdhury R; John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Williams R; Institute of Hepatology London, Foundation for Liver Research, London,SE5 9NT and Faculty of Life Sciences & Medicine, King´s College London, London, UK.

Hereditas ; 154: 16, 2017.

Article en En | MEDLINE | ID: mdl-29270100

Asunto(s)

Efecto Fundador; Pérdida Auditiva Sensorineural/genética; Hemocromatosis/genética; Degeneración Hepatolenticular/genética; Síndrome de Jervell-Lange Nielsen/genética; Proteínas de la Membrana/genética; Análisis Mutacional de ADN; Femenino; Heterocigoto; Humanos; Masculino; Mutación; Linaje; Suecia

Palabras clave

DFNB31; Hereditary hemochromatosis; Jervell and Lange- Nielsen´s syndrome; Long QT syndrome; Non syndromic hearing loss; TMC1; WHRN; Wilson´s disease

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Efecto Fundador / Síndrome de Jervell-Lange Nielsen / Pérdida Auditiva Sensorineural / Hemocromatosis / Degeneración Hepatolenticular / Proteínas de la Membrana Tipo de estudio: Prognostic_studies País/Región como asunto: Europa Idioma: En Revista: Hereditas Año: 2017 Tipo del documento: Article

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