Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene

Blood

Volumn 99, Issue 2, 2002, Pages 702-705

  Ajzner, Éva ^a,b,c   Balogh, István ^a,b,c   Szabó, Teréz ^a,b,c   Marosi, Anikó ^a,b,c   Haramura, Gizella ^a,b,c   Muszbek, László ^a,b,c  

^a UNIVERSITY OF DEBRECEN   (Hungary)

^b Central Laboratory   (Hungary)

^c HEIM PÁL CHILDREN S HOSPITAL   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5;

AMINO TERMINAL SEQUENCE; ARTICLE; BLEEDING; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CODON; DISEASE SEVERITY; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; HETEROZYGOSITY; HUMAN; IMMUNOPRECIPITATION; INFANT; MALE; MOLECULAR WEIGHT; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WESTERN BLOTTING;

EID: 0037079738     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V99.2.702     Document Type: Article

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