Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene.
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Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.Evaluation of von Willebrand factor phenotypes and genotypes in Hemophilia A patients with and without identified F8 mutationsExperience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview.Haemophilia A: from mutation analysis to new therapies.In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypesMolecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies.Evidence of pathogenicity of a mutation in 3' untranslated region causing mild haemophilia A.Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation.Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats.Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations.Identification and characterization of an adenine to guanine transition within intron 10 of the factor VIII gene as a causative mutation in a patient with mild haemophilia A.Deep intronic 'mutations' cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA.Pitfalls in the diagnosis of hemophilia severity: What to do?Sequencing of the factor 8(F8) coding regions in 10 Turkish hemophilia A patients reveals three novel pathological mutations, and one rediagnosis of von Willebrand's disease type 2N.Deep intronic variations may cause mild hemophilia A.Molecular characterization of ten F8 splicing mutations in RNA isolated from patient's leucocytes: assessment of in silico prediction tools accuracy.Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A.The status of carrier and prenatal diagnosis of haemophilia in China.Tandem inversion duplication within F8 Intron 1 associated with mild haemophilia A.Investigation of disease-associated factors in haemophilia A patients without detectable mutations.Abnormal coagulation factor VIII transcript in a Tennessee Walking Horse colt with hemophilia A.The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.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.Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.
P2860
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P2860
Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene.
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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name
Analysis of mRNA in hemophilia ...... icing in the factor VIII gene.
@en
Analysis of mRNA in hemophilia ...... icing in the factor VIII gene.
@nl
type
label
Analysis of mRNA in hemophilia ...... icing in the factor VIII gene.
@en
Analysis of mRNA in hemophilia ...... icing in the factor VIII gene.
@nl
prefLabel
Analysis of mRNA in hemophilia ...... icing in the factor VIII gene.
@en
Analysis of mRNA in hemophilia ...... icing in the factor VIII gene.
@nl
P2093
P2860
P921
P1476
Analysis of mRNA in hemophilia ...... licing in the factor VIII gene
@en
P2093
C R Müller
H H Brackmann
J Oldenburg
J Schröder
O El-Maarri
P Hanfland
U Herbiniaux
P2860
P304
P356
10.1111/J.1538-7836.2005.01140.X
P50
P577
2005-02-01T00:00:00Z