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WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198*

OBJECTIVES: To determine the pattern of mutations of the WISP3 gene in clinically identified progressive pseudorheumatoid dysplasia (PPD) in an Indian population. PATIENTS AND METHODS: A total of 15 patients with clinical features of PPD were enrolled in this study. Genomic DNA was isolated and poly...

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Detalles Bibliográficos
Autores principales: Madhuri, V., Santhanam, M., Rajagopal, K., Sugumar, L. K., Balaji, V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4957178/
https://www.ncbi.nlm.nih.gov/pubmed/27436824
http://dx.doi.org/10.1302/2046-3758.57.2000520