Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.
about
Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia AThe Canadian "National Program for hemophilia mutation testing" database: a ten-year reviewPreimplantation genetic diagnosis of hemophilia ACompound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093IleIdentification of missense mutations in exon 16 of factor VIII gene in mild and moderate cases with hemophilia A.Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.Evidence for large inversion polymorphisms in the human genome from HapMap dataMutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRMTargeted inversion and reversion of the blood coagulation factor 8 gene in human iPS cells using TALENsValidation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.Coagulation disorders seen through the window of molecular biology.Clinical utility gene card for: haemophilia A.Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleases.A study of prospective surveillance for inhibitors among persons with haemophilia in the United States.Molecular basis of haemophilia A.Human inversions and their functional consequencesHaemophilia A: from mutation analysis to new therapies.Haemophilia A: molecular insights.Inverted low-copy repeats and genome instability--a genome-wide analysisIntron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.Inhibitors of factor VIII in black patients with hemophiliaChallenges of multiple mutations in individual patients with haemophilia.Recent advances in targeted genome engineering in mammalian systems.Prenatal diagnosis in haemophilia A: experience of the genetic diagnostic laboratory.Genomic approaches to bleeding disorders.Short-range inversions: rethinking organelle genome stability: template switching events during DNA replication destabilize organelle genomes.First molecular analysis of F8 gene in algeria: identification of two novel mutations.Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency.First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations.Characterization of four novel molecular changes in the promoter region of the factor VIII gene.A strategy for the molecular diagnosis in hemophilia a in Chinese population.A recurrent F8 mutation (c.6046C>T) causing hemophilia A in 8% of northern Italian patients: evidence for a founder effect.Germ-line origin of intron 1 inversion in two haemophilia A families.Genetic analysis of bleeding disorders.DNA recombination. Recombination initiation maps of individual human genomes.Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats.Detection of new mutations and molecular pathology of mild and moderate haemophilia A patients from southern Brazil.Characterization of large deletions in the F8 gene using multiple competitive amplification and the genome walking technique.Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations.Informativeness of a novel multiallelic marker-set comprising an F8 intron 21 and three tightly linked loci for haemophilia A carriership analysis.
P2860
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P2860
Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.
description
2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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name
Recurrent inversion breaking i ...... cause of severe hemophilia A.
@en
Recurrent inversion breaking i ...... cause of severe hemophilia A.
@nl
type
label
Recurrent inversion breaking i ...... cause of severe hemophilia A.
@en
Recurrent inversion breaking i ...... cause of severe hemophilia A.
@nl
prefLabel
Recurrent inversion breaking i ...... cause of severe hemophilia A.
@en
Recurrent inversion breaking i ...... cause of severe hemophilia A.
@nl
P2093
P921
P356
P1433
P1476
Recurrent inversion breaking i ...... cause of severe hemophilia A.
@en
P2093
Francesco Giannelli
Naushin Waseem
Peter M Green
Richard D Bagnall
P304
P356
10.1182/BLOOD.V99.1.168
P407
P577
2002-01-01T00:00:00Z