Heterozygous large deletion mimicking homozygous substitution in <i>MCFD2</i> in a patient with combined Factor V and Factor VIII deficiency-Reference-Cited by-同舟云学术

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

Published:2024-05-19 Issue:4 Volume:30 Page:1089-1091
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Rezigue Hamdi¹²,Chamouni Pierre²^ORCID,Fretigny Mathilde¹,Barbay Virginie³⁴,Le Cam‐Duchez Véronique³⁴,Bobee Victor⁴,Lanne Simon⁵,Dumesnil Cecile⁶,Vinciguerra Christine¹²,Schneider Pascale⁷,Jourdy Yohann¹²^ORCID

Affiliation:

1. Service d'hématologie biologique Hospices Civils de Lyon Groupe Hospitalier Est Bron France

2. Université Claude Bernard Lyon 1 UR4609 Hémostase et thrombose Lyon France

3. CHU de Rouen, Hôpital Charles‐Nicolle Centre de ressources et de compétences – Maladies hémorragiques constitutionnelles Rouen France

4. Service d'hématologie biologique CHU de Rouen, Hôpital Charles Nicolle Rouen France

5. Laboratoire Defrance Le Petit Quevilly France

6. Centre Hospitalier Eure‐Seine Evreux France

7. Service d‘immuno‐hémato‐oncologie pédiatrique CHU de Rouen, Hôpital Charles‐Nicolle Rouen France

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/hae.15038

Reference9 articles.

1. Mutations in the ER–Golgi Intermediate Compartment Protein ERGIC-53 Cause Combined Deficiency of Coagulation Factors V and VIII

2. Combined Deficiency of Coagulation Factors V and VIII: An Update

3. The COPII pathway and hematologic disease

4. Low factor V level ameliorates bleeding diathesis in patients with combined deficiency of factor V and factor VIII

5. Identification of new F8 deep intronic variations in patients with haemophilia A