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A case of Gilbert syndrome caused by gene compound heterozygous mutations / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences ; (6): 406-409, 2020.
Artigo em Chinês | WPRIM | ID: wpr-828502
ABSTRACT
A case of Gilbert syndrome (GS) with a heterozygous mutation in the gene is reported. The patient had no symptoms except for recurrent sclera icterus since childhood. Laboratory examinations revealed an elevated unconjugated bilirubin. Biliary obstruction, hemolysis and other diseases that might cause jaundice were excluded. *28 and c.211G>A heterozygous mutations in gene were found, which may be another type of mutation causing GS in Chinese population.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Bilirrubina / Glucuronosiltransferase / Povo Asiático / Genética / Doença de Gilbert / Heterozigoto / Mutação Limite: Humanos Idioma: Chinês Revista: Journal of Zhejiang University. Medical sciences Ano de publicação: 2020 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Bilirrubina / Glucuronosiltransferase / Povo Asiático / Genética / Doença de Gilbert / Heterozigoto / Mutação Limite: Humanos Idioma: Chinês Revista: Journal of Zhejiang University. Medical sciences Ano de publicação: 2020 Tipo de documento: Artigo