Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing
2015 ◽
Vol 28
(11-12)
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Keyword(s):
AbstractTo perform molecular analysis of pediatric maturity onset diabetes of the young (MODY) patients by next-generation sequencing, which enables simultaneous analysis of multiple genes in a single test, to determine the genetic etiology of a group of Turkish children clinically diagnosed as MODY, and to assess genotype-phenotype relationship.Forty-two children diagnosed with MODY and their parents were enrolled in the study. Clinical and laboratory characteristics of the patients at the time of diagnosis were obtained from hospital records. Molecular analyses ofA mutation in MODY genes was identified in 12 (29%) of the cases.The results of this study showed that mutations in the
2018 ◽
Vol 31
(12)
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pp. 1295-1304
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2015 ◽
Vol 125
(11)
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pp. 845-851
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2016 ◽
Vol 29
(4)
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2021 ◽
2013 ◽
Vol 8
(1)
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pp. 85
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