Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val) [9]

Journal of Thrombosis and Haemostasis

Volumn 3, Issue 4, 2005, Pages 808-811

  Jayandharan, G ^a   Shaji, R V ^a   Nair, S C ^a   Chandy, M ^a   Srivastava, Alok ^a  

^a CHRISTIAN MEDICAL COLLEGE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DISULFIDE; ENZYME PRECURSOR; GENOMIC DNA; ISOLEUCINE; PHENYLALANINE; SERINE PROTEINASE; THROMBIN; THROMBOPLASTIN; TRYPTASE; VALINE; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 9; LEUCINE; PRIMER DNA; SERINE; TYROSINE;

AMINO ACID SEQUENCE; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CODON; EXON; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEMOPHILIA B; HUMAN; INTRON; LETTER; MISSENSE MUTATION; PARTIAL THROMBOPLASTIN TIME; PRIORITY JOURNAL; BLEEDING; CHEMISTRY; CHILD; FEMALE; GENETICS; GENOTYPE; MALE; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION;

CHILD; CODON; DNA PRIMERS; EXONS; FACTOR IX; FACTOR XI; FACTOR XI DEFICIENCY; FEMALE; GENOTYPE; HEMOPHILIA B; HEMORRHAGE; HUMANS; INTRONS; LEUCINE; MALE; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PHENYLALANINE; POLYMERASE CHAIN REACTION; SERINE; TYROSINE; VALINE;

EID: 23044484378     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2005.01230.x     Document Type: Letter

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