Novel deletion mutation in the glucokinase gene from a korean man with GCK-MODY phenotype and situs inversus.
Sign Up to like & getrecommendations! Published in 2018 at "Diabetes research and clinical practice"
DOI: 10.1016/j.diabres.2018.07.036
Abstract: A novel mutation in intron 9-exon 10 boundary of the GCK gene was detected in a male patient with clinical features of GCK-MODY and situs inversus. This case highlights the value of sequencing the GCK… read more here.
Keywords: gck mody; mody phenotype; situs inversus; gene ... See more keywords
The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm13020172
Abstract: During differential diagnosis of diabetes mellitus, the greatest difficulties are encountered with young patients because various types of diabetes can manifest themselves in this age group (type 1, type 2, and monogenic types of diabetes… read more here.
Keywords: mody; mutation spectrum; diabetes mellitus; gene ... See more keywords