Cargando…
Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal neuropathy that is commonly caused by a reciprocal 1.5 Mb deletion on chromosome 17p11.2, at the site of the peripheral myelin protein 22 (PMP22) gene. Other patients with similar phenotypes have been shown to harbor poi...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4258352/ https://www.ncbi.nlm.nih.gov/pubmed/25506001 http://dx.doi.org/10.1155/2014/946010 |