Literature DB >> 10947213

Identification of a 5' splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa.

S Uotani1, H Yamasaki, H Takino, E Kawasaki, H Matsuo, S Yamasaki, Y Jinno, N Niikawa, M Ito, H Sugie, Y Yamaguchi, K Eguchi.   

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Year:  2000        PMID： 10947213     DOI： 10.1023/a:1005632818722

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  1 in total

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

Authors:  Y Bao; T L Dawson; Y T Chen
Journal:  Genomics       Date:  1996-12-01       Impact factor: 5.736
  1 in total
  1 in total

1.  Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.

Authors:  Yoriko Endo; Asako Horinishi; Matthias Vorgerd; Yoshiko Aoyama; Tetsu Ebara; Toshio Murase; Masato Odawara; Teodor Podskarbi; Yoon S Shin; Minoru Okubo
Journal:  J Hum Genet       Date:  2006-09-19       Impact factor: 3.172
  1 in total

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