Literature DB >> 8815868

A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.

M Okubo, Y Aoyama, T Murase.   

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Year:  1996        PMID： 8815868     DOI： 10.1006/bbrc.1996.1235

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


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  2 in total

1.  A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.

Authors:  Jae Sung Ko; Jin Soo Moon; Jeong Kee Seo; Hye Ran Yang; Ju Young Chang; Sung Sup Park
Journal:  J Hum Genet       Date:  2013-11-21       Impact factor: 3.172

2.  Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.

Authors:  Faten Ben Rhouma; Hatem Azzouz; François M Petit; Mariem Ben Khelifa; Amel Ben Chehida; Fehmi Nasrallah; Frédéric Parisot; Khaled Lasram; Rym Kefi; Yosra Bouyacoub; Lilia Romdhane; Christiane Baussan; Naziha Kaabachi; Marie-Françoise Ben Dridi; Neji Tebib; Sonia Abdelhak
Journal:  Mol Biol Rep       Date:  2013-05-08       Impact factor: 2.316
  2 in total

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