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Moszyńska, I., Kabzińska, D., Sinkiewicz-Darol, E. and Kochański, A. (2009) A Newly Identified Thr99fsX110 Mutation in the PMP22 Gene Associated with an Atypical Phenotype of the Hereditary Neuropathy with Liability to Pressure Palsies. Acta Biochimica Polonica, 56, 627-630.

has been cited by the following article:

• TITLE: Point Mutation Analysis of PMP22 in Patients Referred for Hereditary Neuropathy with Liability to Pressure Palsies

  AUTHORS: Samuel B. Brown, David J. Bunyan

  KEYWORDS: Point Mutations, PMP22, HNPP

  JOURNAL NAME: Open Journal of Genetics, Vol.4 No.6, October 29, 2014

  ABSTRACT: A cohort of 404 patients referred for hereditary neuropathy with liability to pressure palsies was tested initially for the common PMP22 whole gene deletion. 94 whole gene deletions were detected, plus three partial gene deletions, and the remaining 307 patients were screened for PMP22 point mutations. Nine point mutations were identified (8.5% of all mutations), eight of which were in exon 5, suggesting a point mutation hotspot for individuals with this condition. Sequencing analysis of PMP22 exon 5 should therefore be included as a routine diagnostic test for gene deletion-negative patients.