Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats.
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Genetic testing in bleeding disordersFactor VIII therapy for hemophilia A: current and future issues.Evidence of pathogenicity of a mutation in 3' untranslated region causing mild haemophilia A.Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy.Deep intronic 'mutations' cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA.Novel characterization of a breakpoint in F8: an individualized approach to gene analysis when PCR and MLPA results contradict.F8 gene: embedded in a region of genomic instability representing a hotspot of complex rearrangements.
P2860
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P2860
Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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name
Identification of a third rear ...... tion between inverted repeats.
@en
Identification of a third rear ...... tion between inverted repeats.
@nl
type
label
Identification of a third rear ...... tion between inverted repeats.
@en
Identification of a third rear ...... tion between inverted repeats.
@nl
prefLabel
Identification of a third rear ...... tion between inverted repeats.
@en
Identification of a third rear ...... tion between inverted repeats.
@nl
P2093
P2860
P1476
Identification of a third rear ...... ation between inverted repeats
@en
P2093
P2860
P304
P356
10.1111/J.1538-7836.2012.04809.X
P577
2012-08-01T00:00:00Z