Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family.

Johnson, Stephanie R; Leo, Paul; Conwell, Louise S; Harris, Mark; Brown, Matthew A; Duncan, Emma L

Johnson, Stephanie R; Leo, Paul; Conwell, Louise S; Harris, Mark; Brown, Matthew A; Duncan, Emma L.

Affiliation

Johnson SR; Department of Endocrinology, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
Leo P; University of Queensland Diamantina Institute, Brisbane, Queensland, Australia.
Conwell LS; Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.
Harris M; Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Queensland, Australia.
Brown MA; Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Queensland, Australia.
Duncan EL; Department of Endocrinology, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.

J Diabetes ; 10(9): 764-767, 2018 Sep.

Article in En | MEDLINE | ID: mdl-29726111

Subject(s)
Key words

ABCC8; hyperinsulinism; massively parallel sequencing; maturity-onset diabetes of the young; whole exome sequencing

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Biomarkers / Genetic Testing / Mutation, Missense / Diabetes Mellitus, Type 2 / Sulfonylurea Receptors Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Adult / Female / Humans / Male Language: En Journal: J Diabetes Journal subject: ENDOCRINOLOGIA Year: 2018 Document type: Article Affiliation country: Country of publication:

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