Molecular characterisation of Tyr530Ser and IVS16-1G>T mutations causing severe factor V deficiency

Thrombosis and Haemostasis

Volumn 104, Issue 3, 2010, Pages 536-543

  Zheng, Weidong ^a,b   Liu, Yanhui ^b   Luo, Ying ^b   Chen, Zhihong ^b   Wang, Yan ^b   Zhang, Liyan ^b   Gao, Guoquan ^a   Yao, Zhibin ^a  

^a SUN YAT SEN UNIVERSITY   (China)

^b GUANGDONG PROVINCIAL PEOPLE'S HOSPITAL   (China)

Author keywords

Factor V deficiency; Missense mutation; Pathogenetic mechanism; Splicing mutation

Indexed keywords

BLOOD CLOTTING FACTOR 5; SERINE; TYROSINE;

ANIMAL CELL; ARTICLE; BIOINFORMATICS; BLOOD CLOTTING; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CASE REPORT; CONTROLLED STUDY; DELETION MUTANT; EXON; GENETIC TRANSCRIPTION; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; RNA SPLICING; RNA TRANSCRIPTION; SEQUENCE ANALYSIS; SITE DIRECTED MUTAGENESIS; WILD TYPE;

ALTERNATIVE SPLICING; ANIMALS; BLOOD COAGULATION; BLOOD COAGULATION TESTS; BLOTTING, WESTERN; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; CHINA; COS CELLS; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR V; FACTOR V DEFICIENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX; TRANSFECTION;

EID: 77956631021     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH09-10-0735     Document Type: Article

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