Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa-Reference-Cited by-同舟云学术

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

Published:1999-08 Issue:6 Volume:22 Page:762-763
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Hadjigeorgiou G. M.¹²,Comi G. P.¹,Bordoni A.¹,Shen J.³,Chen Y.-T.³,Salani S.¹,Toscano A.⁴,Fortunato F.¹,Lucchiari S.¹,Bresolin N.¹,Rodolico C.⁴,Piscaglia M. G.⁵,Franceschina L.¹,Papadimitriou A.²,Scarlato G.¹

Affiliation:

1. ; Centro Dino Ferrari, Istituto di Clinica Neurologica; Università degli Studi di Milano, IRCCS Ospedale Maggiore Policlinico; Milan Italy; and

2. ; Division of Neurology; Red Cross Hospital; Athens Greece

3. ; Division of Medical Genetics, Department of Pediatrics; Duke University Medical Center; Durham North Carolina USA

4. ; Intituto di Clinica Neurologica II; Università di Messina; Messina Italy

5. Servizio di Neurologia; Ospedale delgi Infermi; Rimini Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005572906807/fullpdf

Reference3 articles.

1. Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5′ flanking region;Bao;Genomics,1996

2. Mutations in the exon 3 of the glycogen debranching enzyme are associated with glycogen storage disease type III that is di.erentially expressed in liver and muscle;Shen;J Clin Invest,1996

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