A novel mutation (Gln433Glu) in exon 12 combined with the G insertion in exon 13 causes severe factor XI deficiency in Japanese patients

Blood Coagulation and Fibrinolysis

Volumn 18, Issue 5, 2007, Pages 519-523

  Ishikawa, Nobutsune ^a   Okada, Satoshi ^a   Sato, Takashi ^a   Yasunaga, Shin'ichiro ^b   Ohtsubo, Motoaki ^b   Takihara, Yoshihiro ^b   Kobayashi, Masao ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

^b HIROSHIMA UNIVERSITY   (Japan)

Author keywords

Catalytic domain; Compound heterozygosity; Factor XI; Mutation; Polymorphism

Indexed keywords

BLOOD CLOTTING FACTOR 11; GLUTAMIC ACID; GLUTAMINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CASE REPORT; EPISTAXIS; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC HETEROGENEITY; HETEROZYGOSITY; HUMAN; JAPAN; JEW; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS;

AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CATALYTIC DOMAIN; CHILD, PRESCHOOL; EXONS; FACTOR XI; FACTOR XI DEFICIENCY; FEMALE; FRAMESHIFT MUTATION; HUMANS; JAPAN; JEWS; MALE; MUTAGENESIS, INSERTIONAL; MUTATION, MISSENSE; PEDIGREE;

EID: 34250803785     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e328133f553     Document Type: Article

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