Molecular basis of the first reported clinical case of congenital combined deficiency of coagulation factors

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Veröffentlicht in:Blood 2017-08, Vol.130 (7), p.948-951
Hauptverfasser: Jin, Da-Yun, Ingram, Brian O., Stafford, Darrel W., Tie, Jian-Ke
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container_title Blood
container_volume 130
creator Jin, Da-Yun
Ingram, Brian O.
Stafford, Darrel W.
Tie, Jian-Ke
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doi_str_mv 10.1182/blood-2017-05-782367
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subjects Blood Coagulation Factors - metabolism
Carbon-Carbon Ligases - deficiency
Carbon-Carbon Ligases - genetics
CRISPR-Cas Systems
Dose-Response Relationship, Drug
Frameshift Mutation
Gene Knockout Techniques
Genes, Reporter
HEK293 Cells
Hemorrhagic Disorders - blood
Hemorrhagic Disorders - genetics
Humans
Introns - genetics
Letter to
Protein Binding
Protein Domains
Protein Processing, Post-Translational
Protein Stability
RNA Splicing - genetics
Sequence Deletion
Vitamin K - administration & dosage
Vitamin K - pharmacology
title Molecular basis of the first reported clinical case of congenital combined deficiency of coagulation factors
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