Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.
Publication
, Journal Article
Hadjigeorgiou, GM; Comi, GP; Bordoni, A; Shen, J; Chen, YT; Salani, S; Toscano, A; Fortunato, F; Lucchiari, S; Bresolin, N; Rodolico, C ...
Published in: J Inherit Metab Dis
August 1999
Duke Scholars
Published In
J Inherit Metab Dis
DOI
ISSN
0141-8955
Publication Date
August 1999
Volume
22
Issue
6
Start / End Page
762 / 763
Location
United States
Related Subject Headings
- RNA, Messenger
- RNA Splicing
- Mutation
- Humans
- Glycogen Storage Disease Type III
- Glycogen Debranching Enzyme System
- Genetics & Heredity
- Female
- DNA Mutational Analysis
- Adult
Citation
APA
Chicago
ICMJE
MLA
NLM
Hadjigeorgiou, G. M., Comi, G. P., Bordoni, A., Shen, J., Chen, Y. T., Salani, S., … Scarlato, G. (1999). Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa. J Inherit Metab Dis, 22(6), 762–763. https://doi.org/10.1023/a:1005572906807
Hadjigeorgiou, G. M., G. P. Comi, A. Bordoni, J. Shen, Y. T. Chen, S. Salani, A. Toscano, et al. “Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.” J Inherit Metab Dis 22, no. 6 (August 1999): 762–63. https://doi.org/10.1023/a:1005572906807.
Hadjigeorgiou GM, Comi GP, Bordoni A, Shen J, Chen YT, Salani S, et al. Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa. J Inherit Metab Dis. 1999 Aug;22(6):762–3.
Hadjigeorgiou, G. M., et al. “Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.” J Inherit Metab Dis, vol. 22, no. 6, Aug. 1999, pp. 762–63. Pubmed, doi:10.1023/a:1005572906807.
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. Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa. J Inherit Metab Dis. 1999 Aug;22(6):762–763.
Published In
J Inherit Metab Dis
DOI
ISSN
0141-8955
Publication Date
August 1999
Volume
22
Issue
6
Start / End Page
762 / 763
Location
United States
Related Subject Headings
- RNA, Messenger
- RNA Splicing
- Mutation
- Humans
- Glycogen Storage Disease Type III
- Glycogen Debranching Enzyme System
- Genetics & Heredity
- Female
- DNA Mutational Analysis
- Adult