Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.M1T
Back to variants list

LMAN1

NM_005570.4:p.M1T

Associated Papers

The genetic spectrum of rare bleeding disorders.

Mohsenian S et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Clinical, Laboratory, Molecular, and Reproductive Aspects of Combined Deficiency of Factors V and VIII.

Yakovleva E et al.

Seminars in Thrombosis and Hemostasis, 2025

Desmopressin acetate as a haemostatic elevator in individuals with combined deficiency of factors V and VIII: a clinical trial.

Mansouritorghabeh H et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

Combined deficiency of coagulation factors V and VIII: an update.

Zheng C et al.

Seminars in Thrombosis and Hemostasis, 2013

A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII.

Yamada T et al.

American Journal of Hematology, 2009

Recent developments in the understanding of the combined deficiency of FV and FVIII.

Zhang B

British Journal of Haematology, 2009

Combined FV and FVIII deficiency.

Spreafico M et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.

Zhang B et al.

Blood, 2008

Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India.

Jayandharan G et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007

A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients.

D'Ambrosio R et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2007

Genetic diagnosis of haemophilia and other inherited bleeding disorders.

Peyvandi F et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2006

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.

Zhang B et al.

Blood, 2006

Review of clinical, biochemical and genetic aspects of combined factor V and factor VIII deficiency, and report of a new affected family.

Faioni EM et al.

Thrombosis Research, 2003

Molecular genetics in haemophilia A.

Oldenburg J et al.

Vox Sanguinis, 2000

Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.

Neerman-Arbez M et al.

Blood, 1999

ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families.

Nichols WC et al.

Blood, 1999

[Management of cesarean section under replacement therapy with factor VIII concentrates in a pregnant case with congenital combined deficiency of factor V and factor VIII].

Ueno H et al.

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1991

[Case report of congenital deficiency of factor V and factor VIII].

Vujaklija-Stipanović K et al.

Bilten Za Hematologiju I Transfuziju, 1979

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."