A novel SERPINC1 frameshift mutation in two antithrombin deficiency families.

Donglei Zhang, Boyang Sun, Xian Zhang, Huiyuan Li, Yani Lin, Li Qin, Long Chen, Lei Zhang, Kun Ru, Renchi Yang

Journal: International journal of laboratory hematology 2020;42(2):e48-e51

PMID: 31441586

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Abstract

Address: State Key Laboratory of Experimental Hematology, National Clinical Research Center for Hematological disorders, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China.; Tianjin Sino-US Diagnostics Co., Ltd, Tianjin, China.; The hematology department of Zhongnan hospital of Wuhan University, Wuhan, China.; Tianjin Laboratory of Blood Disease Gene Therapy, Tianjin, China.

DOI: 10.1111/ijlh.13097

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MeSH Terms: Adult, Amino Acid Sequence, Antithrombin III, Antithrombin III Deficiency, Base Sequence, Family Health, Female, Frameshift Mutation, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Humans, Male, Models, Molecular, Pedigree, Protein Conformation, Sequence Homology, Amino Acid, Young Adult