Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sneha Mokashi"'
Autor:
Jessica Cooley Coleman, Sneha Mokashi, Adithya Kandhadai, Aubrey Rose, Richard Steet, Raymond Louie, Michael Lyons, Fatima Abidi
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101569- (2024)
Externí odkaz:
https://doaj.org/article/54c619472c384253bb957d216e8642ed
Autor:
Maxwell B Colonna, Tonya Moss, Sneha Mokashi, Sujata Srikanth, Julie R Jones, Jackson R Foley, Cindy Skinner, Angie Lichty, Anthony Kocur, Tim Wood, Tracy Murray Stewart, Robert A Casero Jr., Heather Flanagan-Steet, Arthur S Edison, Michael J Lyons, Richard Steet
Publikováno v:
Human Molecular Genetics. 32:732-744
Mono- and bi-allelic variants in ALDH18A1 cause a spectrum of human disorders associated with cutaneous and neurological findings that overlap with both cutis laxa and spastic paraplegia. ALDH18A1 encodes the bifunctional enzyme pyrroline-5-carboxyla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cbbb2275c5e888aa175ac583a5cd72d
https://doi.org/10.1093/hmg/ddac226
https://doi.org/10.1093/hmg/ddac226