Literature DB >> 7655466

Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.

W L Hwu1, S C Chuang, L P Tsai, M H Chang, S M Chuang, T R Wang.   

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Year:  1995        PMID： 7655466     DOI： 10.1093/hmg/4.6.1095

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  3 in total

1.  Hypercalcaemia in glycogen storage disease type Ia: a case with R83H and 341delG mutations.

Authors:  W L Hwu; S C Chiang; S F Huang; M H Chang; W H Wen; T R Wang
Journal:  J Inherit Metab Dis       Date:  1999-12       Impact factor: 4.982

Review 2.  Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.

Authors:  Janice Y Chou; Brian C Mansfield
Journal:  Hum Mutat       Date:  2008-07       Impact factor: 4.878

3.  Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.

Authors:  M Stroppiano; S Regis; M DiRocco; F Caroli; P Gandullia; R Gatti
Journal:  J Inherit Metab Dis       Date:  1999-02       Impact factor: 4.982
  3 in total

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