Characterization of duplication breakpoints in the factor VIII gene.
about
Genetic testing in bleeding disordersIntron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats.The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked.Characterization of large deletions in the F8 gene using multiple competitive amplification and the genome walking technique.Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy.Deletions and duplications in the factor VIII gene identified using multiplex ligation-dependent probe amplification.Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A.F8 gene: embedded in a region of genomic instability representing a hotspot of complex rearrangements.Tandem inversion duplication within F8 Intron 1 associated with mild haemophilia A.F8 gene dosage defects in atypical patients with severe haemophilia A.Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.von Willebrand disease.
P2860
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P2860
Characterization of duplication breakpoints in the factor VIII gene.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Characterization of duplication breakpoints in the factor VIII gene.
@en
Characterization of duplication breakpoints in the factor VIII gene.
@nl
type
label
Characterization of duplication breakpoints in the factor VIII gene.
@en
Characterization of duplication breakpoints in the factor VIII gene.
@nl
prefLabel
Characterization of duplication breakpoints in the factor VIII gene.
@en
Characterization of duplication breakpoints in the factor VIII gene.
@nl
P2093
P1476
Characterization of duplication breakpoints in the factor VIII gene.
@en
P2093
C R Müller
J Oldenburg
M A Zimmermann
P304
P356
10.1111/J.1538-7836.2010.04040.X
P577
2010-12-01T00:00:00Z