Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
about
Combined deficiency of coagulation factors V and VIII: an updateCrystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIIIStructural basis for the cooperative interplay between the two causative gene products of combined factor V and factor VIII deficiencyMice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of α1-antitrypsinEF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII.Molecular basis of LMAN1 in coordinating LMAN1-MCFD2 cargo receptor formation and ER-to-Golgi transport of FV/FVIIIThe COPII pathway and hematologic diseaseSuccessful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1.Recent developments in the understanding of the combined deficiency of FV and FVIII.Cargo loading at the ER.Inherited hematological disorders due to defects in coat protein (COP)II complex.The rare inherited coagulation disorders.Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII.Two new mutations at ERGIC-53 gene in a Turkish family.Factor VII and factor X deficiency in a child with a chromosome 13q duplication and deletion.Desmopressin acetate as a haemostatic elevator in individuals with combined deficiency of factors V and VIII: a clinical trial.Abnormal coagulation factor VIII transcript in a Tennessee Walking Horse colt with hemophilia A.Genetics of intellectual disability in consanguineous families.Unveiling the unfolding pathway of F5F8D disorder-associated D81H/V100D mutant of MCFD2 via multiple molecular dynamics simulations.
P2860
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P2860
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
@ast
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
@en
type
label
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
@ast
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
@en
prefLabel
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
@ast
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
@en
P2093
P2860
P1433
P1476
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
@en
P2093
Angela Yang
Chunlei Zheng
David Ginsburg
Edward G D Tuddenham
Flora Peyvandi
Johnny Mahlangu
Kandice Marchant
Marta Spreafico
Michael U Callaghan
P2860
P304
P356
10.1182/BLOOD-2007-10-113951
P407
P577
2008-04-07T00:00:00Z