Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(20000313)91:2<107::aid-ajmg5>3.0.co;2-y ◽

2000 ◽

Vol 91 (2) ◽

pp. 107-112 ◽

Author(s):

Jun Akanuma ◽

Toshinori Nishigaki ◽

Kunihiro Fujii ◽

Yoichi Matsubara ◽

Koji Inui ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Molecular Diagnosis ◽

Storage Disease ◽

Japanese Patients ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Lymphoblastoid Cells ◽

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