Novel glucokinase gene mutation in the first Macedonian family tested for MODY.

Abstract:

:We present a boy with mild hyperglycemia detected during an upper respiratory infection. Novel splicing mutation in the intron 1 of the GCK gene (c.45+1G>A) was detected, and was subsequently confirmed in his father. This is the first case of genetically confirmed Macedonian family with MODY.

authors

Kocova M,Elblova L,Pruhova S,Lebl J,Dusatkova P

doi

10.1016/j.diabres.2017.04.001

subject

Has Abstract

pub_date

2017-08-01 00:00:00

pages

86-89

eissn

0168-8227

issn

1872-8227

pii

S0168-8227(16)31744-2

journal_volume

130

pub_type

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