Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthe...

por Lin, Hsin-Ti, Enchautegui-Colon, Yazmin, Huang, Yu-Ren, Zimmerman, Chelsea, DeMarzo, Danielle, Tsai, Anne Chun-Hui
Publicado 2022

Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperam...

por Tsai, Anne Chun-Hui, Lin, Hsin-Ti, Chou, Maxwell, Bolen, Jessica, Zimmerman, Chelsea, DeMarzo, Danielle, Enchautegui-Colon, Yazmin
Publicado 2022