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Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A

The T118M mutation in PMP22 gene is associated with Charcot Marie Tooth, type 1A (CMT1A). CMT1A is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Mutations in CMT related disorder are seen to increase the stability of the protein resulting...

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Detalles Bibliográficos
Autores principales: Kumar, Chundi Vinay, Swetha, Rayapadi G., Anbarasu, Anand, Ramaiah, Sudha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4220619/
https://www.ncbi.nlm.nih.gov/pubmed/25400662
http://dx.doi.org/10.1155/2014/502618