about
Oriented scanning is the leading mechanism underlying 5' splice site selection in mammals.Factor VII Deficiency: Clinical Phenotype, Genotype and TherapyGenotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children.Autosomal recessive deficiencies of coagulation factors.Rare coagulation deficiencies.Perinatal gene transfer to the liver.Does the genotype predict the phenotype? Evaluations of the hemostatic proteome.How to evaluate phenotype-genotype relationship in rare coagulation haemorrhagic disorders: examples from FVII deficiency.Congenital factor VII deficiency: therapy with recombinant activated factor VII -- a critical appraisal.Proteases as therapeutics.Organ targeted prenatal gene therapy--how far are we?Intracellular evaluation of ER targeting elucidates a mild form of inherited coagulation deficiencyCharacterization of two novel splice site mutations in human factor VII gene causing severe plasma factor VII deficiency and bleeding diathesis.Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII.The P303T mutation in the human factor VII (FVII) gene alters the conformational state of the enzyme and causes a severe functional deficiency.Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients.Predicted solution structure of zymogen human coagulation FVII.Human factor VII deficiency caused by S339C mutation located adjacent to the specificity pocket of the catalytic domain.A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a pedigree: a description of two cases.Two novel mutations in severe factor VII deficiency.Homozygous nonsense mutation (Cys72-->stop) in the human F7 gene: a not life-threatening mutation despite the absence of circulating factor VII.Long-term FVII substitution in a preterm infant with severe gastrointestinal bleeding and FVII deficiency due to a homozygous donor splice mutation IVS4+1G-->A.The molecular basis of low activity levels of coagulation factor VII: a Brazilian cohort.A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency.Molecular Characterization of Iranian Patients with Inherited Coagulation Factor VII Deficiency.Prenatal gene therapy for the early treatment of genetic disordersCalcium-Binding EGF-Like DomainsSevere FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion
P2860
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P2860
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
name
Factor VII deficiency and the FVII mutation database.
@ast
Factor VII deficiency and the FVII mutation database.
@en
Factor VII deficiency and the FVII mutation database.
@nl
type
label
Factor VII deficiency and the FVII mutation database.
@ast
Factor VII deficiency and the FVII mutation database.
@en
Factor VII deficiency and the FVII mutation database.
@nl
prefLabel
Factor VII deficiency and the FVII mutation database.
@ast
Factor VII deficiency and the FVII mutation database.
@en
Factor VII deficiency and the FVII mutation database.
@nl
P2093
P2860
P1433
P1476
Factor VII deficiency and the FVII mutation database.
@en
P2093
A D Mumford
E G Tuddenham
G Kemball-Cook
P2860
P356
10.1002/1098-1004(2001)17:1<3::AID-HUMU2>3.0.CO;2-V
P577
2001-01-01T00:00:00Z