A novel mutation W257R in gene discovered from a Chinese patient with maturity onset diabetes of the young / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences
;
(6): 200-203, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-775234
ABSTRACT
Maturity onset diabetes of the young (MODY) is a monogenic autosomal dominant inherited disease. Its clinical manifestations are asymptomatic with slightly elevated fasting blood glucose and few complications. This paper reports a novel mutation W257R in glucokinase () gene from a Chinese patient with MODY. Heterozygous mutation c.769T>C (p.W257R) in exon 7 of gene (Chr744187343) was found in the proband, her father and brother. This W257R mutation was first reported in Chinese population.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
China
/
Diabetes Mellitus Tipo 2
/
Genética
/
Glucoquinase
/
Mutação
Limite:
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Journal of Zhejiang University. Medical sciences
Ano de publicação:
2019
Tipo de documento:
Artigo
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