Dominant Form of Congenital Hyperinsulinism Maps to HK1 Region on 10q | Zendy

Sara E. Pinney | Zendy; Karthik Ganapathy | Zendy; Jonathan P. Bradfield | Zendy; David Stokes | Zendy; Ariella Sasson | Zendy; Katarzyna Mackiewicz | Zendy; Kara E. Boodhansingh | Zendy; Nkecha Hughes | Zendy; Susan Becker | Zendy; Stephanie Givler | Zendy; Courtney MacMullen | Zendy; Dimitrios Monos | Zendy; Arupa Ganguly | Zendy; Hákon Hákonarson | Zendy; Charles A. Stanley | Zendy

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Dominant Form of Congenital Hyperinsulinism Maps to HK1 Region on 10q

Author(s) -

Sara E. Pinney,

Karthik Ganapathy,

Jonathan P. Bradfield,

David Stokes,

Ariella Sasson,

Katarzyna Mackiewicz,

Kara E. Boodhansingh,

Nkecha Hughes,

Susan Becker,

Stephanie Givler,

Courtney MacMullen,

Dimitrios Monos,

Arupa Ganguly,

Hákon Hákonarson,

Charles A. Stanley

Publication year - 2013

Publication title -

hormone research in paediatrics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.816

H-Index - 89

eISSN - 1663-2826

pISSN - 1663-2818

DOI - 10.1159/000351943

Subject(s) - locus (genetics) , genetics , biology , missense mutation , hypoglycemia , phenotype , gene , congenital hyperinsulinism , diazoxide , hyperinsulinism , genetic linkage , candidate gene , locus heterogeneity , insulin , genetic heterogeneity , endocrinology , insulin resistance

In a family with congenital hyperinsulinism (HI), first described in the 1950s by McQuarrie, we examined the genetic locus and clinical phenotype of a novel form of dominant HI.

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