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Thromb Haemost 2006; 95(05): 893-895
DOI: 10.1160/TH06-01-0051
Case Report
Schattauer GmbH

Combined factor V – factor VIII deficiency (F5F8D): Compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient

Roula A. Farah
1   Departments of Pediatrics and Laboratory Medicine, Rizk Hospital, Beirut, Lebanon
,
Philippe de Moerloose
2   Division of Angiology and Hemostasis, University Hospitals, Geneva, Switzerland
,
Isabelle Bouchardy
3   Molecular Diagnostic Laboratory, Service of Medical Genetics, University Hospitals, Geneva, Switzerland
,
Michael A. Morris
3   Molecular Diagnostic Laboratory, Service of Medical Genetics, University Hospitals, Geneva, Switzerland
,
Wadad Barakat
1   Departments of Pediatrics and Laboratory Medicine, Rizk Hospital, Beirut, Lebanon
,
Alain E. Sayad
1   Departments of Pediatrics and Laboratory Medicine, Rizk Hospital, Beirut, Lebanon
,
Marguerite Neerman-Arbez
2   Division of Angiology and Hemostasis, University Hospitals, Geneva, Switzerland
4   Department of Genetic Medicine and Development, University Medical School, Geneva, Switzerland
› Author AffiliationsFinancial support: This study was supported by the Swiss National Science Foundation (SNF). MNA is the recipient of an SNF Professorship (# 631–66023).
Further Information

Publication History

Received 25 January 2006

Accepted after resubmission 16 March 2006

Publication Date:
01 December 2017 (online)

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