Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy

Point mutations in the peripheral myelin protein 22 (PMP22) gene have been identified to cause demyelinating Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsy (HNPP). To investigate the mutation spectrum of PMP22 in Han-Chinese population residing in Taiwan...

Descripción completa

Detalles Bibliográficos
Autores principales: Liao, Yi-Chu, Tsai, Pei-Chien, Lin, Thy-Sheng, Hsiao, Cheng-Tsung, Chao, Nai-Chen, Lin, Kon-Ping, Lee, Yi-Chung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681590/
https://www.ncbi.nlm.nih.gov/pubmed/29127354
http://dx.doi.org/10.1038/s41598-017-14771-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681590/
https://www.ncbi.nlm.nih.gov/pubmed/29127354
http://dx.doi.org/10.1038/s41598-017-14771-5

Ejemplares similares