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Volumn 71, Issue 1, 2000, Pages 84-89
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A novel type of factor XI deficiency showing compound genetic abnormalities: A nonsense mutation and an impaired transcription
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Author keywords
Compound heterozygote; Factor xi deficiency; Japanese family; Platelet factor XI; RT PCR
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Indexed keywords
ADULT;
ARTICLE;
BLOOD CLOTTING FACTOR 11 DEFICIENCY;
CASE REPORT;
DNA SEQUENCE;
DRUG EFFECT;
FAMILY HEALTH;
GENETIC TRANSCRIPTION;
GENETICS;
HUMAN;
JAPAN;
MALE;
MISSENSE MUTATION;
PEDIGREE;
STOP CODON;
ADULT;
CODON, NONSENSE;
FACTOR XI DEFICIENCY;
FAMILY HEALTH;
HUMANS;
JAPAN;
MALE;
MUTATION, MISSENSE;
PEDIGREE;
SEQUENCE ANALYSIS, DNA;
TRANSCRIPTION, GENETIC;
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EID: 17144456879
PISSN: 09255710
EISSN: None
Source Type: Journal
DOI: None Document Type: Article |
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Times cited : (14)
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References (2)
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