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A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing - Clinical characteristics of mutation carriers.
Szopa, Magdalena; Ludwig-Galezowska, Agnieszka H; Radkowski, Piotr; Skupien, Jan; Machlowska, Julita; Klupa, Tomasz; Wolkow, Pawel; Borowiec, Maciej; Mlynarski, Wojciech; Malecki, Maciej T.
Affiliation
  • Szopa M; Department of Metabolic Diseases, Jagiellonian University, Medical College, Krakow, Poland; University Hospital, Krakow, Poland.
  • Ludwig-Galezowska AH; Department of Metabolic Diseases, Jagiellonian University, Medical College, Krakow, Poland; Center for Medical Genomics OMICRON, Poland.
  • Radkowski P; Center for Medical Genomics OMICRON, Poland.
  • Skupien J; Department of Metabolic Diseases, Jagiellonian University, Medical College, Krakow, Poland; Center for Medical Genomics OMICRON, Poland.
  • Machlowska J; Center for Medical Genomics OMICRON, Poland.
  • Klupa T; Department of Metabolic Diseases, Jagiellonian University, Medical College, Krakow, Poland; University Hospital, Krakow, Poland.
  • Wolkow P; Center for Medical Genomics OMICRON, Poland.
  • Borowiec M; Department of Clinical Genetics and Laboratory Medical University, Lodz, Poland.
  • Mlynarski W; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Poland.
  • Malecki MT; Department of Metabolic Diseases, Jagiellonian University, Medical College, Krakow, Poland; University Hospital, Krakow, Poland. Electronic address: maciej.malecki@uj.edu.pl.
Eur J Med Genet ; 59(2): 75-9, 2016 Feb.
Article in En | MEDLINE | ID: mdl-26773576
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Diabetes Mellitus, Type 2 / Basic Helix-Loop-Helix Transcription Factors Type of study: Prognostic_studies Limits: Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Poland
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Diabetes Mellitus, Type 2 / Basic Helix-Loop-Helix Transcription Factors Type of study: Prognostic_studies Limits: Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Poland