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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.
Journal cover image

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