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Mathilde Fretigny

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Articles by Mathilde Fretigny

Heterozygous large deletion mimicking homozygous substitution in MCFD2 in a patient with combined Factor V and Factor VIII deficiency

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By Hamdi Rezigue, Mathilde Fretigny, Pierre Chamouni, Virginie Barbay
| Wiley Online Library Verified
LETTER TO THE EDITOR Heterozygous large deletion mimicking homozygous substitution in MCFD2 in a patient with combined Factor V and Factor VIII deficiency Hamdi Rezigue, Hamdi Rezigue Service d'hématologie biologique, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France Université Claude Bernard Lyon 1, UR4609 Hémostase et thrombose, Lyon, France Search for more papers by this authorPierre Chamouni, Pierre Chamouni Université Claude Bernard Lyon 1, UR4609 Hémostase et thrombose,...
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Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non‐severe haemophilia A

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By Alexandre Leuci, Christophe Zawadzki, Amy Dericquebourg, Mathilde Fretigny
| Wiley Online Library Verified
CONFLICT OF INTEREST STATEMENT The authors declare no conflicts of interest. Supporting Information Filename Description hae14824-sup-0001-SuppMat.docx647 KB Supporting Information REFERENCES 1, , , , , . Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost. 2001; 85: 560. Factor VIII and Factor IX Subcommittee. 2, , , et al.
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