Title : Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B - Simhadri_2017_J.Med.Genet_54_338 |
Author(s) : Simhadri VL , Hamasaki-Katagiri N , Lin BC , Hunt R , Jha S , Tseng SC , Wu A , Bentley AA , Zichel R , Lu Q , Zhu L , Freedberg DI , Monroe DM , Sauna ZE , Peters R , Komar AA , Kimchi-Sarfaty C |
Ref : Journal of Medical Genetics , 54 :338 , 2017 |
PubMedID: 28007939 |
Title : Factor IX oligomerization underlies reduced activity upon disruption of physiological conditions - Simhadri_2014_Haemophilia_20_e157 |
Author(s) : Simhadri VL , Hamasaki-Katagiri N , Tseng SC , Bentley AA , Zichel R , Hershko AY , Komar AA , Kimchi-Sarfaty C |
Ref : Haemophilia , 20 :e157 , 2014 |
PubMedID: 24417758 |