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A founder mutation MLC1 c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts-1 in north Indian kindred.

作者信息

Vellarikkal S K, Jayarajan R, Verma A, Ravi R, Senthilvel V, Kumar A, Saini L, Gulati S, Lal M, Mathur A, Chhetri M K, Faruq M, Scaria V, Sivasubbu S

机构信息

Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India.

Academy of Scientific and Innovative Research (AcSIR), CSIR-IGIB South Campus, New Delhi, India.

出版信息

Clin Genet. 2018 Aug;94(2):271-273. doi: 10.1111/cge.13251. Epub 2018 Apr 18.

DOI:10.1111/cge.13251
PMID:29667716
Abstract
摘要

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