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

Jin, Da-Yun; Ingram, Brian O; Stafford, Darrel W; Tie, Jian-Ke

Jin, Da-Yun; Ingram, Brian O; Stafford, Darrel W; Tie, Jian-Ke.

Affiliation

Jin DY; Department of Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC.
Ingram BO; Department of Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC.
Stafford DW; Department of Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC.
Tie JK; Department of Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC.

Blood ; 130(7): 948-951, 2017 08 17.

Article in En | MEDLINE | ID: mdl-28679738

Subject(s)

Carbon-Carbon Ligases/deficiency; Frameshift Mutation; Hemorrhagic Disorders/genetics; Sequence Deletion; Blood Coagulation Factors/metabolism; CRISPR-Cas Systems; Carbon-Carbon Ligases/genetics; Dose-Response Relationship, Drug; Gene Knockout Techniques; Genes, Reporter; HEK293 Cells; Hemorrhagic Disorders/blood; Humans; Introns/genetics; Protein Binding; Protein Domains; Protein Processing, Post-Translational; Protein Stability; RNA Splicing/genetics; Vitamin K/administration & dosage; Vitamin K/pharmacology

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Frameshift Mutation / Sequence Deletion / Carbon-Carbon Ligases / Hemorrhagic Disorders Limits: Humans Language: En Journal: Blood Year: 2017 Type: Article Affiliation country: New Caledonia

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