Concepedia

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

Wen-Ling Shaiu, Priya S. Kishnani, Jianjun Shen, Hui-Ming Liu, Yuan-Tsong Chen

Molecular Genetics and Metabolism · 2000 · 37 citations · 22 references

DOI

Concepts

References

22

The metabolic and molecular bases of inherited disease

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

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Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

Michael Krawczak, D.N. Cooper · Human Genetics · 1991 · 486 citations · Full text

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The base substitution fidelity of eucaryotic DNA polymerases. Mispairing frequencies, site preferences, insertion preferences, and base substitution by dislocation.

Thomas A. Kunkel, Pakhomov Alexander · Journal of Biological Chemistry · 1986 · 303 citations · Full text

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Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.

Jianjun Shen, Yizhong Bao, H.M. Liu et al. · Journal of Clinical Investigation · 1996 · 142 citations · Full text

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Mechanisms of insertional mutagenesis in human genes causing genetic disease

D.N. Cooper, Michael Krawczak · Human Genetics · 1991 · 141 citations

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