Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Emily S. Rao"'
Autor:
Michell M. Lozano Chinga, Alison A. Bertuch, Zeinab Afify, Kaylee Dollerschell, Joanne I. Hsu, Tami D. John, Emily S. Rao, Robert Grant Rowe, Vijay G. Sankaran, Akiko Shimamura, David A. Williams, Taizo A. Nakano
Publikováno v:
American Journal of Medical Genetics Part A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e494a87b6eaf7a0dddd60b719197df0e
https://doi.org/10.1002/ajmg.a.63208
https://doi.org/10.1002/ajmg.a.63208
Autor:
Carolyn L. Taylor, Estathia Chronopoulou, Germaine Pierre, Hilary J. Vernon, Andrea Heyman, Brittany Hornby, Emily S. Rao
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 45(1)
Barth Syndrome is a rare X-linked disorder caused by pathogenic variants in the gene TAFAZZIN, which encodes for an enzyme involved in the remodeling of cardiolipin, a phospholipid primarily localized to the inner mitochondrial membrane. Barth Syndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a139e5132f81a2cc4d91437588befb61
https://pubmed.ncbi.nlm.nih.gov/34355402
https://pubmed.ncbi.nlm.nih.gov/34355402