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February 1, 2001Human Molecular GeneticsOpen Access

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

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AGA. GuilbotNormandie Université

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A. Guilbot (2001) studied this question.

synapsesocial.com/papers/6a6fefebfe4101aa97dff542https://doi.org/10.1093/hmg/10.4.415
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Monoclonal antibodies against recombinant parts of the Ki‐67 antigen (MIB 1 and MIB 3) detect proliferating cells in microwave‐processed formalin‐fixed paraffin sections1992 · 1,465 citations
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  3. 3Two PDZ Domain Proteins Encoded by the Murine Periaxin Gene Are the Result of Alternative Intron Retention and Are Differentially Targeted in Schwann Cells1998 · 89 citations