Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis

BACKGROUND: Limb-girdle muscular dystrophy (LGMD) is the most common adult-onset class of muscular dystrophies in India, but a majority of suspected LGMDs in India remain unclassified to the genetic subtype level. The next-generation sequencing (NGS)-based approaches have allowed molecular character...

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Detaylı Bibliyografya
Yayımlandı:Ann Indian Acad Neurol
Asıl Yazarlar: Dastur, Rashna Sam, Gaitonde, Pradnya Satish, Kachwala, Munira, Nallamilli, Babi R. R., Ankala, Arunkanth, Khadilkar, Satish V., Atchayaram, Nalini, Gayathri, N., Meena, A. K., Rufibach, Laura, Shira, Sarah, Hegde, Madhuri
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Medknow Publications & Media Pvt Ltd 2017
Konular:
Original Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5586129/
https://ncbi.nlm.nih.gov/pubmed/28904466
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/aian.AIAN_129_17
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