Zobrazeno 1 - 2
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pro vyhledávání: '"Ramya Sukrutha"'
Autor:
Dipti Baskar, Seena Vengalil, Kiran Polavarapu, Veeramani Preethish-Kumar, Gautham Arunachal, Ramya Sukrutha, Mainak Bardhan, Akshata Huddar, Gopikrishnan Unnikrishnan, Girish Baburao Kulkarni, Yasha T. Chickabasaviah, Rashmi Santhosh Kumar, Atchayaram Nalini, Saraswati Nashi
Publikováno v:
Global Medical Genetics, Vol 11, Iss 04, Pp 297-303 (2024)
Introduction ORAI-1 is a plasma membrane calcium release-activated calcium channel that plays a crucial role in the excitation–contraction of skeletal muscles. Loss-of-function mutations of ORAI-1 cause severe combined immunodeficiency, nonprogress
Externí odkaz:
https://doaj.org/article/cf549a7ea159480b91bed6d9fa940577
Autor:
Gautham Arunachal, Madhura Milind Nimonkar, Pavithra Mahadeva, Ramya Sukrutha, Kenchaiah Raghavendra, Ghati K. Chetan, Manjunatha M. Venkataswamy, Bhupesh Mehta, Yogananda S. Markandeya
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103573- (2024)
The iPSC line NIMHi013-A was generated from peripheral blood mononuclear cells of a paediatric patient with drug resistant epilepsy. The proband was found to have a likely pathogenic missense variant in the SCN1A gene in heterozygous state, which seg
Externí odkaz:
https://doaj.org/article/deabda466fcf4e829b780cfbaf70fb00