Concepedia

Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene

Celia J. Angaroni, Philippe Labrune, François Petit, Darío Sastre, Ana E. Capra, Raquel Dodelson de Kremer, Carlos E. Argaraña

Molecular Genetics and Metabolism · 2006 · 14 citations · 10 references

DOI

Concepts

References

10

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

Borhane Annabi, Brian C. Mansfield, Hisayuki Hiraiwa et al. · The American Journal of Human Genetics · 1998 · 136 citations · Full text

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Transmembrane Topology of Human Glucose 6-Phosphate Transporter

Chi‐Jiunn Pan, Baochuan Lin, Janice Y. Chou · Journal of Biological Chemistry · 1999 · 76 citations · Full text

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Glycogen storage disease type Ib without neutropenia

Shigeo Kure, Dian-Chang Hou, Yasuyuki Suzuki et al. · The Journal of Pediatrics · 2000 · 55 citations

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Structure and mutation analysis of the glycogen storage disease type 1b gene

Paola Marcolongo, Virginia Barone, Giuseppina Priori et al. · FEBS Letters · 1998 · 52 citations · Full text

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