A novel INS mutation in a family with maturity-onset diabetes of the young: Variable insulin secretion and putative mechanisms.

Johnson, Stephanie R; McGown, Ivan; Oppermann, Udo; Conwell, Louise S; Harris, Mark; Duncan, Emma L

Johnson, Stephanie R; McGown, Ivan; Oppermann, Udo; Conwell, Louise S; Harris, Mark; Duncan, Emma L.

Afiliación

Johnson SR; Department of Endocrinology, Lady Cilento Children's Hospital, South Brisbane, QLD, Australia.
McGown I; Faculty of Medicine, The University of Queensland, Herston, QLD, Australia.
Oppermann U; Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, QLD, Australia.
Conwell LS; Molecular Genetics, Mater Health Services, South Brisbane, QLD, Australia.
Harris M; Structural Genomics Consortium, Botnar Research Center, Oxford Biomedical Research Unit, University of Oxford, Oxford, UK.
Duncan EL; Freiburg Institute of Advanced Studies (FRIAS), University of Freiburg, Freiburg, Germany.

Pediatr Diabetes ; 19(5): 905-909, 2018 08.

Article en En | MEDLINE | ID: mdl-29633446

Asunto(s)

Diabetes Mellitus Tipo 2/genética; Insulina/genética; Adulto; Anciano; Niño; Análisis Mutacional de ADN; Femenino; Secuenciación de Nucleótidos de Alto Rendimiento; Humanos; Secreción de Insulina; Masculino

Palabras clave

genetic sequencing; insulin gene; massively parallel sequencing; maturity-onset diabetes on the young; monogenic diabetes

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diabetes Mellitus Tipo 2 / Insulina Límite: Adult / Aged / Child / Female / Humans / Male Idioma: En Revista: Pediatr Diabetes Asunto de la revista: ENDOCRINOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Australia

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