| 28327546 |
Missense mutations near the N-glycosylation site of the A2 domain lead to various intracellular trafficking defects in coagulation factor VIII
Wei, W,
Zheng, C,
Zhu, M,
Zhu, X,
Yang, R,
Misra, S,
Zhang, B
|
Sci Rep |
2017 |
| 24108539 |
Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein
Pahl, S,
Pavlova, A,
Driesen, J,
Oldenburg, J
|
Thromb. Haemost. |
2014 |
| 24037092 |
Endogenous factor VIII synthesis from the intron 22-inverted F8 locus may modulate the immunogenicity of replacement therapy for hemophilia A
Pandey, GS,
Yanover, C,
Miller-Jenkins, LM,
Garfield, S,
Cole, SA,
Curran, JE,
Moses, EK,
Rydz, N,
Simhadri, V,
Kimchi-Sarfaty, C,
Lillicrap, D,
Viel, KR,
Przytycka, TM,
Pierce, GF,
Howard, TE,
Sauna, ZE
|
Nat. Med. |
2013 |
| 30690819 |
Splicing analysis of 26 F8 nucleotide variations using a minigene assay
Jourdy, Y,
Fretigny, M,
Nougier, C,
Negrier, C,
Bozon, D,
Vinciguerra, C
|
Haemophilia |
2019 |
| 29170251 |
Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity
Donadon, I,
McVey, JH,
Garagiola, I,
Branchini, A,
Mortarino, M,
Peyvandi, F,
Bernardi, F,
Pinotti, M
|
Haematologica |
2018 |
| 10691849 |
Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A
Roelse, JC,
De Laaf, RT,
Timmermans, SM,
Peters, M,
van Mourik, JA,
Voorberg, J
|
Br. J. Haematol. |
2000 |
| 29444815 |
Molecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII
Wei, W,
Misra, S,
Cannon, MV,
Yang, R,
Zhu, X,
Gilmore, R,
Zhu, M,
Zhang, B
|
Biochem. J. |
2018 |
| 11380445 |
Stable recombinant expression and characterization of the two haemophilic factor VIII variants C329S (CRM(-)) and G1948D (CRM(r))
David, D,
Saenko, EL,
Santos, IM,
Johnson, DJ,
Tuddenham, EG,
McVey, JH,
Kemball-Cook, G
|
Br. J. Haematol. |
2001 |
| 21217077 |
Factor VIII A3 domain substitution N1922S results in hemophilia A due to domain-specific misfolding and hyposecretion of functional protein
Summers, RJ,
Meeks, SL,
Healey, JF,
Brown, HC,
Parker, ET,
Kempton, CL,
Doering, CB,
Lollar, P
|
Blood |
2011 |
| 2107542 |
Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis
Kogan, S,
Gitschier, J
|
Proc. Natl. Acad. Sci. U.S.A. |
1990 |
| 8810344 |
Factor VIII C2 domain missense mutations exhibit defective trafficking of biologically functional proteins
Pipe, SW,
Kaufman, RJ
|
J. Biol. Chem. |
1996 |
| 25406352 |
The intron-22-inverted F8 locus permits factor VIII synthesis: explanation for low inhibitor risk and a role for pharmacogenomics
Sauna, ZE,
Lozier, JN,
Kasper, CK,
Yanover, C,
Nichols, T,
Howard, TE
|
Blood |
2015 |
| 8836140 |
Intracellular retention of a factor VIII protein with an Arg2307-->Gln mutation as a cause of haemophilia A
Voorberg, J,
De Laaf, RT,
Koster, PM,
van Mourik, JA
|
Biochem. J. |
1996 |
| 15810915 |
Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype
Hill, M,
Deam, S,
Gordon, B,
Dolan, G
|
Haemophilia |
2005 |
