Identification of a novel mutation in ALMS1 in a Chinese patient with monogenic diabetic syndrome by whole-exome sequencing.

Zhong, Ming; Huang, Ling-Ning; Zhang, Song-Jing; Yan, Sun-Jie

Zhong, Ming; Huang, Ling-Ning; Zhang, Song-Jing; Yan, Sun-Jie.

Afiliação

Zhong M; Department of Endocrinology; Fujian Diabetes Research Institute; Metabolic Diseases Research Institute, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian, China.
Huang LN; Department of Endocrinology; Fujian Diabetes Research Institute; Metabolic Diseases Research Institute, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian, China.
Zhang SJ; Department of Endocrinology; Fujian Diabetes Research Institute; Metabolic Diseases Research Institute, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian, China.
Yan SJ; Department of Endocrinology; Fujian Diabetes Research Institute; Metabolic Diseases Research Institute, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian, China.

Niger J Clin Pract ; 25(12): 2077-2080, 2022 Dec.

Article em En | MEDLINE | ID: mdl-36537469

Assuntos

Síndrome de Alstrom; Diabetes Mellitus; Humanos; Proteínas de Ciclo Celular/genética; Sequenciamento do Exoma; População do Leste Asiático; Síndrome de Alstrom/genética; Mutação

Palavras-chave

Alstrom syndrome; diabetes mellitus; monogenic diabetes; whole-exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diabetes Mellitus / Síndrome de Alstrom Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China

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