A Unique Point Mutation in the PMP22 Gene Is Associated with Charcot-Marie-Tooth Disease and Deafness - Concepedia

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A Unique Point Mutation in the PMP22 Gene Is Associated with Charcot-Marie-Tooth Disease and Deafness

DOI Full Paper Access

83

Citations

60

References

1999

Year

Margaret J. Kovach, Jing‐Ping Lin, Simeon A. Boyadjiev, Kathleen C. M. Campbell, Larry Mazzeo, Kristin Herman, Lisa A. Rimer, William E. Frank, Barbara Llewellyn, Ethylin Wang Jabs,

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderPmp22 Gene IsGeneticsPathogenesisCharcot-marie-tooth DiseasePathologyMolecular GeneticsDisease Gene IdentificationUnique Point MutationMedicine

References

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