Type I factor XIII deficiency is caused by a genetic defect of its b subunit: Insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain

Blood

Volumn 87, Issue 7, 1996, Pages 2769-2774

  Izumi, Tomonori ^b   Hashiguchi, Teruto ^b   Castaman, Giancarlo ^b   Tosetto, Alberto ^b   Rodeghiero, Francesco ^b   Girolami, Antonio ^b   Ichinose, Akitada ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; MESSENGER RNA;

ARTICLE; BLEEDING DISORDER; BLOOD CLOTTING FACTOR 13 DEFICIENCY; CASE REPORT; CODON; CONTROLLED STUDY; DISEASE CLASSIFICATION; DNA SEQUENCE; EXON; GENE AMPLIFICATION; GENE MUTATION; GENETIC DISORDER; HUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0029947440     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v87.7.2769.bloodjournal8772769     Document Type: Article

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