Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene

Blood Coagulation and Fibrinolysis

Volumn 19, Issue 7, 2008, Pages 679-683

  Kwon, Min Junq ^a   Kim, Hee Jin ^a   Bang, Sung Hwan ^a   Kim, Sun Hee ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

Compound heterozygous mutations; F11 gene; Factor XI deficiency; Korea; V498M

Indexed keywords

METHIONINE; VALINE;

ADULT; ARTICLE; ASIAN; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CASE REPORT; EXON; F11 GENE; FEMALE; GENE; GENE MUTATION; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CATALYTIC DOMAIN; EXONS; FACTOR XI; FACTOR XI DEFICIENCY; FEMALE; FRAMESHIFT MUTATION; HUMANS; KOREA; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PREGNANCY; PREGNANCY COMPLICATIONS;

EID: 55049113079     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e32830ef8f9     Document Type: Article

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