Compound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutation

Blood Coagulation and Fibrinolysis

Volumn 19, Issue 1, 2008, Pages 92-94

  Lee, Sun Min ^a   Heo, Yong Seok ^b   Lee, Eun Yup ^a   Chang, Chulhun L ^a   Shin, Ho Jin ^a   Chung, Joo Seop ^a   Hwang, Sang Hyun ^a,c,d  

^a Pusan National University School of Medicine   (South Korea)

^b Konkuk University   (South Korea)

^c Pusan National University   (South Korea)

^d Pusan National University School of Medicine   (South Korea)

Author keywords

Factor VII deficiency; Factor VII mutation; Novel mutation

Indexed keywords

DNA; SERINE PROTEINASE;

ADULT; ARTICLE; BLOOD CELL COUNT; BLOOD CLOTTING; BLOOD CLOTTING FACTOR 7 DEFICIENCY; BLOOD LEVEL; CASE REPORT; DNA SEQUENCE; EMERGENCY WARD; EPISTAXIS; EXON; GENE MUTATION; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOTE; HOSPITAL; HUMAN; INTERNATIONAL NORMALIZED RATIO; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; PRIORITY JOURNAL; PROTHROMBIN TIME; SUBDURAL HEMATOMA;

ADULT; DNA MUTATIONAL ANALYSIS; FACTOR VII DEFICIENCY; HEMATOMA, SUBDURAL; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 37849042156     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e3282f185ed     Document Type: Article

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