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Platelet VPS16B is Dependent on VPS33B Expression, As Determined in Two Siblings with Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome

Monica Penon-Portmann,Sarah K. Westbury,Ling Li,Fred G. Pluthero,Richard J. Y. Liu,Helen H. Y. Yao,Ryan S. Q. Geng,Neil Warner,Aleixo M. Muise,Stephanie Lotz-Esquivel, Marianela Howell-Ramirez,Pablo Saborio-Chacon,Sara Fernandez-Rojas,Manuel Saborio-Rocafort,Mildred Jimenez-Hernandez,Carolina Wang-Zuniga,Walter Cartin-Sanchez,Joseph T. Shieh,Ramses Badilla-Porras,Walter H. A. Kahr

Journal of thrombosis and haemostasis（2022）

Cited 1|Views40
Key words
human genetics,platelet disorder,platelet alpha-granule deficiency,arthrogryposis,renal dysfunction and cholestasis syndrome,VPS33B and VPS16B
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