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

IF 3 2区医学 Q2 HEMATOLOGY

Haemophilia Pub Date : 2024-05-19 DOI:10.1111/hae.15038

Hamdi Rezigue, Pierre Chamouni, Mathilde Fretigny, Virginie Barbay, Véronique Le Cam-Duchez, Victor Bobee, Simon Lanne, Cecile Dumesnil, Christine Vinciguerra, Pascale Schneider, Yohann Jourdy

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一名因子 V 和因子 VIII 合并缺乏症患者 MCFD2 中模仿同源置换的杂合子大缺失。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Haemophilia 医学-血液学

CiteScore

6.50

自引率

28.20%

发文量

226

审稿时长

3-6 weeks

期刊介绍： Haemophilia is an international journal dedicated to the exchange of information regarding the comprehensive care of haemophilia. The Journal contains review articles, original scientific papers and case reports related to haemophilia care, with frequent supplements. Subjects covered include: clotting factor deficiencies, both inherited and acquired: haemophilia A, B, von Willebrand''s disease, deficiencies of factor V, VII, X and XI replacement therapy for clotting factor deficiencies component therapy in the developing world transfusion transmitted disease haemophilia care and paediatrics, orthopaedics, gynaecology and obstetrics nursing laboratory diagnosis carrier detection psycho-social concerns economic issues audit inherited platelet disorders.