Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein.
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Genetic analysis of haemophilia A in BulgariaIdentification of missense mutations in exon 16 of factor VIII gene in mild and moderate cases with hemophilia A.Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization.Somatic mosaicism in hemophilia A: a fairly common event.Molecular defects in coagulation Factor VIII and their impact on Factor VIII function.Haemophilia A: molecular insights.Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations.A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.A highly informative, multiplexed assay for the indirect detection of hemophilia A using five-linked microsatellites.DNA microarray analysis for the detection of mutations in hemophilia A.Substitution of Arg527 and Arg531 in factor VIII associated with mild haemophilia A: characterization in terms of subunit interaction and cofactor function.Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients.Genotyping of intron 22 inversion of factor VIII gene for diagnosis of hemophilia A by inverse-shifting polymerase chain reaction and capillary electrophoresis.Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family.Identification of a new CA dinucleotide repeat in the human factor VIII gene.Heterozygous large deletions of Factor 8 gene in females identified by multiplex PCR-LC.Indirect carrier detection of canine haemophilia A using factor VIII microsatellite markers.A new strategy for prenatal diagnosis in a sporadic haemophilia B family.
P2860
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P2860
Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh
1997年學術文章
@zh-hant
name
Factor VIII gene mutations fou ...... model of factor VIII protein.
@en
Factor VIII gene mutations fou ...... model of factor VIII protein.
@nl
type
label
Factor VIII gene mutations fou ...... model of factor VIII protein.
@en
Factor VIII gene mutations fou ...... model of factor VIII protein.
@nl
prefLabel
Factor VIII gene mutations fou ...... model of factor VIII protein.
@en
Factor VIII gene mutations fou ...... model of factor VIII protein.
@nl
P2093
P356
P1433
P1476
Factor VIII gene mutations fou ...... model of factor VIII protein.
@en
P2093
Brackmann HH
Hanfland P
Michaelides K
Oldenburg J
Pemberton S
Tuddenham EG
P2888
P304
P356
10.1007/S004390050636
P577
1997-12-01T00:00:00Z
P5875
P6179
1044173079