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Article

ABCC8-related maturity-onset diabetes of the young: Clinical features and genetic analysis of one case.

Pediatric diabetes - 1 Aug 2022

Zhou Yun, Sun Yan, Xu Chao, Liu Fan, Gao Yuye, Liu Caihong, Qiao Yu, Yang Jianmei, Li Guimei

Abstract excerpt

OBJECTIVE: To confirm the diagnosis of a 13-year-old adolescent with familial diabetes and further examine his genetic pathogeny. RESEARCH DESIGN AND METHODS: Clinical data were collected, and genetic examination was performed. PolyPhen-2 and Mutation Taster were used to predict the deleterious effects of the variant. Clustal Omega software was used to confirm the conservation of amino acid substitutions. To...

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PMID: 35757975
DOI: 10.1111/pedi.13388

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