Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Lavanya Prakash Acharya"'
Autor:
Sima Chaudhari, Lavanya Prakash Acharya, Dushyanth Babu Jasti, Akshay Pramod Ware, Sankar Prasad Gorthi, Kapaettu Satyamoorthy
Publikováno v:
International Journal of Genomics, Vol 2024 (2024)
Conclusions: Our study is the first to report variants in KCNH8, RTEL1, and RTEL1-TNFRSF6B among PME cases. These genes when characterized fully may shed light on pathogenicity and have the potential to be used in the diagnosis of PME.
Externí odkaz:
https://doaj.org/article/6001456eeda24254ab946cae7cf6d995
Autor:
Sima Chaudhari, Akshay Pramod Ware, Dushyanth Babu Jasti, Sankar Prasad Gorthi, Lavanya Prakash Acharya, Manoj Bhat, Sandeep Mallya, Kapaettu Satyamoorthy
Publikováno v:
Molecular Genetics and Genomics. 298:965-976
Choreoacanthocytosis, one of the forms of neuroacanthocytosis, is caused by mutations in vacuolar protein sorting-associated protein A (VPS13A), and is often misdiagnosed with other form of neuroacanthocytosis with discrete genetic defects. The pheno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ec183d9cd53778e64e4a13203ff33acc
https://doi.org/10.1007/s00438-023-02032-2
https://doi.org/10.1007/s00438-023-02032-2