Divergent phenotypes in siblings with identical novel mutations in the HNF-1&#945; gene leading to maturity onset diabetes of the young type 3.

Knebel, Birgit; Mack, Susanne; Haas, Jutta; Herman-Friede, Mona Kathrin; Lange, Simone; Schubert, Oliver; Kotzka, Jorg; Muller-Wieland, Dirk

Divergent phenotypes in siblings with identical novel mutations in the HNF-1α gene leading to maturity onset diabetes of the young type 3.

Knebel, Birgit; Mack, Susanne; Haas, Jutta; Herman-Friede, Mona Kathrin; Lange, Simone; Schubert, Oliver; Kotzka, Jorg; Muller-Wieland, Dirk.

Afiliación

Knebel B; Institute of Clinical Biochemistry and Pathobiochemistry, German Diabetes Center at the Heinrich-Heine-University Duesseldorf, Leibniz Center for Diabetes Research, Duesseldorf, Germany.
Mack S; Institute for Diabetes Research, Department of General Internal Medicine, Asklepios Clinic St. Georg, Asklepios Campus Hamburg, Medical Faculty of Semmelweis University, Hamburg, Germany.
Haas J; Institute for Diabetes Research, Department of General Internal Medicine, Asklepios Clinic St. Georg, Asklepios Campus Hamburg, Medical Faculty of Semmelweis University, Hamburg, Germany.
Herman-Friede MK; Institute for Diabetes Research, Department of General Internal Medicine, Asklepios Clinic St. Georg, Asklepios Campus Hamburg, Medical Faculty of Semmelweis University, Hamburg, Germany.
Lange S; Institute for Diabetes Research, Department of General Internal Medicine, Asklepios Clinic St. Georg, Asklepios Campus Hamburg, Medical Faculty of Semmelweis University, Hamburg, Germany.
Schubert O; Diabetes Care Center Buxtehude, Buxtehude, Germany.
Kotzka J; Institute of Clinical Biochemistry and Pathobiochemistry, German Diabetes Center at the Heinrich-Heine-University Duesseldorf, Leibniz Center for Diabetes Research, Duesseldorf, Germany.
Muller-Wieland D; Institute for Diabetes Research, Department of General Internal Medicine, Asklepios Clinic St. Georg, Asklepios Campus Hamburg, Medical Faculty of Semmelweis University, Hamburg, Germany. d.mueller-wieland@asklepios.com.

BMC Med Genet ; 17(1): 36, 2016 May 04.

Article en En | MEDLINE | ID: mdl-27142837

Asunto(s)

Diabetes Mellitus Tipo 2/genética; Factor Nuclear 1-alfa del Hepatocito/genética; Mutación INDEL; Mutación Missense; Adulto; Femenino; Predisposición Genética a la Enfermedad; Heterocigoto; Humanos; Masculino; Linaje; Fenotipo; Análisis de Secuencia de ADN/métodos

Palabras clave

HNF-1α; HNF1A-MODY; Maturity-onset diabetes of the young; Metabolic challenge; Metabolic syndrome; Phenotype variety

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación Missense / Diabetes Mellitus Tipo 2 / Factor Nuclear 1-alfa del Hepatocito / Mutación INDEL Límite: Adult / Female / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Alemania

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