Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.

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Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.

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2017 nî lūn-bûn

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Molecular cytogenetic characte ...... ophilia A genetic counselling.

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Molecular cytogenetic characte ...... ophilia A genetic counselling.

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Molecular cytogenetic characte ...... ophilia A genetic counselling.

@en

Molecular cytogenetic characte ...... ophilia A genetic counselling.

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Molecular cytogenetic characte ...... ophilia A genetic counselling.

@en

Molecular cytogenetic characte ...... ophilia A genetic counselling.

@nl

P1476

Molecular cytogenetic characte ...... mophilia A genetic counselling

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P2093

H Chambost

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M Fretigny

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M L Carage

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N Chatron

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S Claeyssens-Donadel

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V Roussel-Robert

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P2860

The DNA sequence of the human X chromosome

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Moyamoya disease and moyamoya syndrome.

Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions.

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.

Molecular basis of haemophilia A.

Genetic risk factors for inhibitors to factors VIII and IX.

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions.

Mechanisms for human genomic rearrangements

Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.

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e316-e323

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scholarly article

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10.1111/HAE.13218

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Damien Sanlaville

Christine Vinciguerra

C Negrier

Yohann Jourdy

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2017-05-05T00:00:00Z

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28475226

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