Literature DB >> 29667716

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

S K Vellarikkal1,2, R Jayarajan1, A Verma1, R Ravi1, V Senthilvel1, A Kumar1, L Saini3, S Gulati3, M Lal4, A Mathur1, M K Chhetri1, M Faruq1,2, V Scaria2,5, S Sivasubbu1,2.   

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Year:  2018        PMID： 29667716     DOI： 10.1111/cge.13251

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

Review 1.  Genomics of rare genetic diseases-experiences from India.

Authors:  Sridhar Sivasubbu; Vinod Scaria
Journal:  Hum Genomics       Date:  2019-09-25       Impact factor: 4.639

2.  Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models.

Authors:  Zhen Shi; Hui-Fang Yan; Bin-Bin Cao; Mang-Mang Guo; Han Xie; Kai Gao; Jiang-Xi Xiao; Yan-Ling Yang; Hui Xiong; Qiang Gu; Ming Li; Ye Wu; Yu-Wu Jiang; Jing-Min Wang
Journal:  World J Pediatr       Date:  2019-08-01       Impact factor: 2.764
  2 in total

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