Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology.

Antosik, Karolina; Gnys, Piotr; De Franco, Elisa; Borowiec, Maciej; Mysliwiec, Malgorzata; Ellard, Sian; Mlynarski, Wojciech

Antosik, Karolina; Gnys, Piotr; De Franco, Elisa; Borowiec, Maciej; Mysliwiec, Malgorzata; Ellard, Sian; Mlynarski, Wojciech.

Afiliação

Antosik K; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.
Gnys P; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.
De Franco E; Institute for Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Borowiec M; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.
Mysliwiec M; Department of Paediatrics, Diabetology and Endocrinology, Medical University of Gdansk, Gdansk, Poland.
Ellard S; Institute for Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Mlynarski W; Department of Paediatrics, Oncology, Haematology and Diabetology, Medical University of Lodz, 36/50 Sporna Str., 91-738, Lodz, Poland. wojciech.mlynarski@umed.lodz.pl.

Acta Diabetol ; 53(2): 337-8, 2016 Apr.

Article em En | MEDLINE | ID: mdl-26123671

Assuntos

Diabetes Mellitus Tipo 2/genética; Diabetes Mellitus/genética; Proteínas Serina-Treonina Quinases/genética; Pré-Escolar; DNA/genética; Feminino; Quinases do Centro Germinativo; Heterozigoto; Humanos; Fenótipo; Análise de Sequência de DNA

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Serina-Treonina Quinases / Diabetes Mellitus / Diabetes Mellitus Tipo 2 Tipo de estudo: Diagnostic_studies Limite: Child, preschool / Female / Humans Idioma: En Revista: Acta Diabetol Ano de publicação: 2016 Tipo de documento: Article

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