Author

Pii M. Pankakoski

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Open access Aug 2026

PMP22 gene diagnostic testing in Southwest Finland in 2005–2020. An observational, register-based study

In clinical diagnostic use of the PMP22 gene analyses, the majority of diagnostic findings were related to HNPP rather than CMT1A, and it is suggested that HNPP merits more research attention.

Pii M. Pankakoski, M. Martikainen · Neurogenetics · 0 citations