Genetic study in patients with factor XII deficiency: A report of three new mutations exon 13 (Q501STOP), exon 14 (P547L) and -13C>T promoter region in three compound heterozygotes

Blood Coagulation and Fibrinolysis

Volumn 19, Issue 7, 2008, Pages 639-643

  Lombardi, Anna Maria ^a,c   Bortoletto, Elisabetta ^a   Scarparo, Pamela ^a   Scapin, Margherita ^a   Santarossa, Liliana ^b   Girolami, Antonio ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^b Pordenone City Hospital   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

Author keywords

Compound heterozygotes; Congenital factor XII deficiency; FXII gene mutations

Indexed keywords

ANTIGEN; BLOOD CLOTTING FACTOR 12;

ARTICLE; BLOOD CLOTTING FACTOR 12 DEFICIENCY; BLOOD CLOTTING TEST; CLINICAL ARTICLE; CONTROLLED STUDY; DIFFUSION; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; IMMUNOLOGY; MALE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION;

BASE SEQUENCE; EXONS; FACTOR XII; FACTOR XII DEFICIENCY; FEMALE; GENETIC HETEROGENEITY; HETEROZYGOTE; HUMANS; MALE; MUTATION; PROMOTER REGIONS, GENETIC;

EID: 55049089726     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e32830d8629     Document Type: Article

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