Molecular cytogenetic characterization of fiveF8complex rearrangements: utility for haemophilia A genetic counselling-Reference-Cited by-同舟云学术

Molecular cytogenetic characterization of fiveF8complex rearrangements: utility for haemophilia A genetic counselling

Published:2017-05-05 Issue:4 Volume:23 Page:e316-e323
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Jourdy Y.¹²^ORCID,Chatron N.³⁴,Fretigny M.¹,Carage M. L.¹,Chambost H.⁵,Claeyssens-Donadel S.⁶,Roussel-Robert V.⁷,Negrier C.¹²,Sanlaville D.³⁴,Vinciguerra C.¹²

Affiliation:

1. Hospices Civils de Lyon; Hôpital Edouard Herriot; Service d'hématologie Biologique; Lyon France

2. Univ Lyon; EA 4609 Hémostase et cancer; Université Claude Bernard Lyon 1; Lyon France

3. Hospices Civils de Lyon; Groupe Hospitalier Est; Laboratoire de Cytogénétique Constitutionnelle; Bron France

4. Univ Lyon; CRNL; équipe GENDEV INSERM U1028; CNRS UMR5292; Université Claude Bernard Lyon 1; Lyon France

5. Centre de traitement de l'hémophilie; CHU La Timone; Marseille France

6. Centre de traitement de l'hémophilie; CHU Purpan; Toulouse France

7. Centre de traitement de l'hémophilie; Hôpital Cochin; Paris France

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.13218/fullpdf

Reference38 articles.

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3. Characterization of the human factor VIII gene;Gitschier;Nature,1984

4. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A;Lakich;Nat Genet,1993

5. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions;Naylor;Hum Mol Genet,1993

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