Heterozygous large deletion mimicking homozygous substitution in <i>MCFD2</i> in a patient with combined Factor V and Factor VIII deficiency
Hamdi Rezigue(Université Claude Bernard Lyon 1), Yohann Jourdy(Hospices Civils de Lyon), Virginie Barbay(Hôpital Charles-Nicolle), Christine Vinciguerra(Université Claude Bernard Lyon 1), Pascale Schneider(Hôpital Charles-Nicolle), C. Dumesnil(Centre Hospitalier de Vitré), Mathilde Frétigny(Hospices Civils de Lyon), Pierre Chamouni(Université Claude Bernard Lyon 1), Victor Bobée(Hôpital Charles-Nicolle), Simon Lanne(Altran (France)), Véronique Le Cam‐Duchez(Hôpital Charles-Nicolle)
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