Compounding variants rescue the effect of a deleterious ADAMTS13 mutation in a child with severe congenital heart disease

Compounding variants rescue the effect of a deleterious ADAMTS13 mutation in a child with severe congenital heart disease

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Thrombosis Research - Volume 158, October 2017, Pages 98-101

Upendra K. Katneni, Ryan Hunt, Gaya K. Hettiarachchi, Nobuko Hamasaki-Katagiri, Chava Kimchi-Sarfaty, Juan C. Ibla,