Chediak- Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.

Autor: Sánchez ‐ Guiu, Isabel1, Antón, Ana I.1, García ‐ Barberá, Nuria1, Navarro ‐ Fernández, José1, Martínez, Constantino1, Fuster, Jose L.2, Couselo, Jose M.3, Ortuño, Francisco J.1, Vicente, Vicente1, Rivera, Jose1, Lozano, Maria L.1
Zdroj: European Journal of Haematology. Jan2014, Vol. 92 Issue 1, p49-58. 10p.
Databáze: Academic Search Ultimate