Zobrazeno 1 - 4
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pro vyhledávání: '"Thirumalai, Karthiyayini"'
Autor:
Sundaramurthy, Srilekha, Selvakumar, Ambika, Dharani, Vidhya, Soumittra, Nagasamy, Mani, Jayaprakash, Thirumalai, Karthiyayini, Periyasamy, Porkodi, Mathavan, Sinnakaruppan, Sripriya, Sarangapani
Publikováno v:
Molecular Vision
Purpose Genetic testing for primary mutations m.3460G>A, m.11778G>A, and m.14484T>C in ND1, ND4, and ND6 genes of mitochondrial DNA is the recommended assay for Leber hereditary optic neuropathy (LHON; OMIM 535000). This report discusses the outcome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e9abd57ccfe1908cec1e62277af467f8
http://europepmc.org/articles/PMC8711579
http://europepmc.org/articles/PMC8711579
Akademický článek
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Autor:
Sudhir R. Rachapalli, Vedam L. Ramprasad, Govindasamy Kumaramanickavel, Thirumalai Karthiyayini, Sampath K. Loganathan, Rama Rajagopal, Tharigopala Arokiasamy, Dharanija Madhavan, Sundaram Sumathi, Nagasamy Soumittra, Joseph R. Casey
Publikováno v:
Journal of Human Genetics. 59:444-453
Late-onset Fuchs endothelial corneal dystrophy (FECD) shows genetic heterogeneity. Identification of SLC4A11 as a candidate gene for congenital hereditary endothelial dystrophy with similar corneal endothelial defects as FECD and reduced mRNA express
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::130f14303917ea870c758a18fc3aad46
https://doi.org/10.1038/jhg.2014.55
https://doi.org/10.1038/jhg.2014.55
Autor:
Thiyagarajan, Seethalakshmi1 (AUTHOR), Thirumalai, Karthiyayini1 (AUTHOR), Nirmala, Sudarshan1 (AUTHOR), Biswas, Jyotirmay1 (AUTHOR), Krishnakumar, Subramanian1 (AUTHOR) drkrishnakumar_2000@yahoo.com
Publikováno v:
Current Eye Research. Oct2009, Vol. 34 Issue 10, p845-851. 7p. 2 Charts, 4 Graphs.