Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions.
about
Complexity and diversity of F8 genetic variations in the 1000 genomesCompound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093IleMutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRMMutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.Epidemiology & social costs of haemophilia in IndiaA homozygous female hemophilia AClinical utility gene card for: haemophilia A.Haemophilia A: molecular insights.Inhibitors of factor VIII in black patients with hemophiliaClinical applications and implications of common and founder mutations in Indian subpopulations.Fluorescent PCR-based gene dose analysis for detection of deletion mutations in carriers of haemophilia.Characterization of F8 defects in haemophilia A in Pakistan: investigation of correlation between mutation type and the in vitro thrombin generation assay.Pitfalls in the diagnosis of hemophilia severity: What to do?Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations.Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene.p.Tyr365Cys change in factor VIII: haemophilia A, but not as we know it.The status of carrier and prenatal diagnosis of haemophilia in China.Prevalence of intron 1 inversion of cases with hemophilia A in North Indian population.F8 gene dosage defects in atypical patients with severe haemophilia A.
P2860
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P2860
Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
Identification of factor VIII ...... novel missense substitutions.
@en
Identification of factor VIII ...... novel missense substitutions.
@nl
type
label
Identification of factor VIII ...... novel missense substitutions.
@en
Identification of factor VIII ...... novel missense substitutions.
@nl
prefLabel
Identification of factor VIII ...... novel missense substitutions.
@en
Identification of factor VIII ...... novel missense substitutions.
@nl
P2093
P2860
P921
P1433
P1476
Identification of factor VIII ...... novel missense substitutions.
@en
P2093
P2860
P304
P356
10.1111/J.1365-2516.2005.01121.X
P577
2005-09-01T00:00:00Z