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.
Article
Dans Chinois
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Chine
/
Diabète de type 2
/
Génétique
/
Glucokinase
/
Mutation
Limites du sujet:
Femelle
/
Humains
/
Mâle
Pays comme sujet:
Asie
langue:
Chinois
Texte intégral:
Journal of Zhejiang University. Medical sciences
Année:
2019
Type:
Article
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