Concepedia

Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands

René Santer, Martina Kinner, Ulrike Steuerwald, Susanne Kjærgaard, F Skovby, Henrik Toft Simonsen, Wen-Ling Shaiu, Yuan-Tsong Chen, Reinhard Schneppenheim, Jürgen Schaub

European Journal of Human Genetics · 2001 · 83 citations · 3 references

DOI

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References

3

Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.

Bing-Zhi Yang, J.H. Ding, Jan J. Enghild et al. · Journal of Biological Chemistry · 1992 · 90 citations · Full text

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A Single-Base Deletion in the 3'-Coding Region of Glycogen-Debranching Enzyme Is Prevalent in Glycogen Storage Disease Type IIIA in a Population of North African Jewish Patients

Ruti Parvari, Shimon Moses, Jianjun Shen et al. · European Journal of Human Genetics · 1997 · 68 citations

, , +14

Genotype-Phenotype Correlation in Two Frequent Mutations and Mutation Update in Type III Glycogen Storage Disease

Wen-Ling Shaiu, Priya S. Kishnani, Jianjun Shen et al. · Molecular Genetics and Metabolism · 2000 · 37 citations

, , +16