Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 +G)

British Journal of Haematology

Volumn 114, Issue 4, 2001, Pages 875-877

  Dossenbach Glaninger, A ^a   Krugluger, W ^a   Schrattbauer, K ^a   Eder, S ^a   Hopmeier, P ^a  

^a KRANKENANSTALT RUDOLFSTIFTUNG   (Austria)

Author keywords

Deficiency; Exon 9; Factor XI; Insertion; Mutation

Indexed keywords

AMINO ACID; BLOOD CLOTTING FACTOR 11; LEUCINE; PHENYLALANINE; RESTRICTION ENDONUCLEASE; SERINE PROTEINASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CASE REPORT; CAUCASIAN; CODON; CONTROLLED STUDY; DIMERIZATION; DISEASE SEVERITY; DNA FLANKING REGION; DNA SEQUENCE; ENZYME ANALYSIS; EXON; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; HETEROZYGOSITY; HUMAN; MULTIGENE FAMILY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN SECRETION; SEQUENCE ANALYSIS;

ADULT; FACTOR XI; FACTOR XI DEFICIENCY; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 0034786374     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.03017.x     Document Type: Article

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