Deep intronic 'mutations' cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA.
about
Genetic testing in bleeding disordersSmall ncRNA Expression-Profiling of Blood from Hemophilia A Patients Identifies miR-1246 as a Potential Regulator of Factor 8 GeneHemophilia B: molecular pathogenesis and mutation analysis.Evaluation of von Willebrand factor phenotypes and genotypes in Hemophilia A patients with and without identified F8 mutationsGenomics of bleeding disorders.Evidence of pathogenicity of a mutation in 3' untranslated region causing mild haemophilia A.Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.Deep intronic mutations and human disease.Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.Novel characterization of a breakpoint in F8: an individualized approach to gene analysis when PCR and MLPA results contradict.Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.Mutational Profiles of and in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population
P2860
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P2860
Deep intronic 'mutations' cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA.
description
2013 nî lūn-bûn
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name
Deep intronic 'mutations' caus ...... etectable mutation in F8 cDNA.
@en
Deep intronic 'mutations' caus ...... etectable mutation in F8 cDNA.
@nl
type
label
Deep intronic 'mutations' caus ...... etectable mutation in F8 cDNA.
@en
Deep intronic 'mutations' caus ...... etectable mutation in F8 cDNA.
@nl
prefLabel
Deep intronic 'mutations' caus ...... etectable mutation in F8 cDNA.
@en
Deep intronic 'mutations' caus ...... etectable mutation in F8 cDNA.
@nl
P2093
P2860
P356
P1476
Deep intronic 'mutations' caus ...... detectable mutation in F8 cDNA
@en
P2093
J Oldenburg
N Marquardt
O El-Maarri
P2860
P304
P356
10.1111/JTH.12339
P577
2013-09-01T00:00:00Z