Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

被引：13

作者：

Hadjigeorgiou, GM

Comi, GP

Bordoni, A

Shen, J

Chen, YT

Salani, S

Toscano, A

Fortunato, F

Lucchiari, S

Bresolin, N

Rodolico, C

Piscaglia, MG

Franceschina, L

Papadimitriou, A

Scarlato, G

机构：

[1] Univ Milan, IRCCS, Osped Maggiore Policlin, Inst Clin Neurol,Ctr Dino Ferrari, I-20122 Milan, Italy

[2] Red Cross Hosp, Div Neurol, Athens, Greece

[3] Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA

[4] Univ Messina, Inst Clin Neurol 2, Messina, Italy

[5] Osped Infermi, Serv Neurol, Rimini, Italy

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1999年 / 22卷 / 06期

关键词：

D O I：

10.1023/A:1005572906807

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：762 / 763

页数：2

共 3 条

[1] Human glycogen debranching enzyme gene (AGL): Complete structural organization and characterization of the 5' flanking region [J].

Bao, Y ;

Dawson, TL ;

Chen, YT .

GENOMICS, 1996, 38 (02) :155-165

[2]

Chen Y.T., 1995, METABOLIC MOL BASES, P935

[3] Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle [J].

Shen, JJ ;

Bao, Y ;

Liu, HM ;

Lee, P ;

Leonard, JV ;

Chen, YT .

JOURNAL OF CLINICAL INVESTIGATION, 1996, 98 (02) :352-357

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