A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain

British Journal of Haematology

Volumn 111, Issue 2, 2000, Pages 556-558

  Kudo, Kazuko ^a   Nagai, Hirokazu ^a   Numata, Shin Ichiro ^a   Ichihara, Masatoshi ^a   Kinoshita, Tomohiro ^a   Horibe, Keizo ^b   Kato, Koji ^a   Matsuyama, Takaharu ^a   Kodera, Yoshihisa ^a   Kojima, Seiji ^b  

^a JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

^b NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Catalytic domain; DNA sequence; Factor XI deficiency; Nonsense mutation; PCR SSCP analysis

Indexed keywords

TRYPTOPHAN;

AGED; AMINO ACID SEQUENCE; ARTICLE; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CASE REPORT; CATALYSIS; DNA SEQUENCE; EXON; HOMOZYGOSITY; HUMAN; HUMAN CELL; JAPAN; MALE; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; STOP CODON;

AGED; AMINO ACID SEQUENCE; CATALYTIC DOMAIN; CODON, NONSENSE; CODON, TERMINATOR; FACTOR XI DEFICIENCY; HOMOZYGOTE; HUMANS; INTESTINAL DISEASES; INTESTINE, SMALL; MALE; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; ULCER;

EID: 0034533380     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2000.02409.x     Document Type: Article

References (10)

1. Inheritance and bleeding in factor XI deficiency
2. Definition of the bleeding tendency in factor XI-deficient kindreds - A clinical and laboratory study
3. Identification of two novel mutations in non-Jewish factor XI deficiency
4. A novel type of factor XI deficiency showing compound genetic abnormalities: A nonsense mutation and an impaired transcription
5. Location of the disulfide bonds in human coagulation factor XI: The presence of tandem apple domains
6. Heterozygous factor XI deficiency associated with three novel mutations
7. A 14 bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency
8. Six point mutations that cause factor XI deficiency
9. Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XI-deficient kindreds
10. Factor XI deficiency