Exon 2 skipping eliminates γ‐glutamyl carboxylase activity, indicating a partial splicing defect in a patient with vitamin K clotting factor deficiency-Reference-Cited by-同舟云学术

Exon 2 skipping eliminates γ‐glutamyl carboxylase activity, indicating a partial splicing defect in a patient with vitamin K clotting factor deficiency

Published:2019-06-07 Issue:7 Volume:17 Page:1053-1063
ISSN:1538-7933
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:J Thromb Haemost

Author:

Rishavy Mark A.¹,Hallgren Kevin W.¹,Zhang Haitao²,Runge Kurt W.²,Berkner Kathleen L.¹

Affiliation:

1. Department of Cardiovascular and Metabolic Sciences Lerner Research InstituteCleveland Clinic Lerner College of Medicine at CWRUCleveland Clinic Cleveland Ohio

2. Department of Inflammation and Immunity Lerner Research InstituteCleveland Clinic Lerner College of Medicine at CWRUCleveland Clinic Cleveland Ohio

Funder

National Institute on Aging

National Heart, Lung, and Blood Institute

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jth.14456

Reference31 articles.

1. Vitamin K‐Dependent Carboxylation

2. The Vitamin K Oxidoreductase Is a Multimer That Efficiently Reduces Vitamin K Epoxide to Hydroquinone to Allow Vitamin K-dependent Protein Carboxylation

3. THE VITAMIN K–DEPENDENT CARBOXYLASE

4. Fatal hemorrhage in mice lacking γ-glutamyl carboxylase

5. VKORC1 deficiency in mice causes early postnatal lethality due to severe bleeding

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