A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree

BACKGROUND: Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is an autosomal recessive disorder with predominant sensory dysfunction and severe complications such as limb destruction. There are different subtypes of HSAN2, including HSAN2A, which is caused by mutations in WNK1/HSN2 gene. M...

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Detalles Bibliográficos
Autores principales: Rahmani, Behrouz, Fekrmandi, Fatemeh, Ahadi, Keivan, Ahadi, Tannaz, Alavi, Afagh, Ahmadiani, Abolhassan, Asadi, Sareh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262971/
https://www.ncbi.nlm.nih.gov/pubmed/30497409
http://dx.doi.org/10.1186/s12883-018-1201-6

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