Identification of the first alu-mediated large deletion involving the f5 gene in a compound heterozygous patient with severe factor v deficiency

Thrombosis and Haemostasis

Volumn 106, Issue 2, 2011, Pages 296-303

  Guella, Ilaria ^a   Paraboschi, Elvezia Maria ^a   van Schalkwyk, Willem A ^b   Asselta, Rosanna ^a   Duga, Stefano ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b NATIONAL HEALTH LABORATORY SERVICE   (South Africa)

Author keywords

Alu sequence; Coagulation factor V; Factor V deficiency; Large deletion; Splicing mutation

Indexed keywords

ALU SEQUENCE; ARTICLE; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; EXON; F5 GENE; FAMILY; GENE; GENE DELETION; HELA CELL; HETEROZYGOSITY; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN CELL; IN VITRO STUDY; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SELECTIN E GENE; SELECTIN L GENE; SELECTIN P GENE; WILD TYPE;

ALU ELEMENTS; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; FACTOR V; FACTOR V DEFICIENCY; HETEROZYGOTE; HUMANS; INFANT; LINKAGE DISEQUILIBRIUM; MALE; MOLECULAR SEQUENCE DATA; REAL-TIME POLYMERASE CHAIN REACTION; SELECTINS; SEQUENCE DELETION; SOUTH AFRICA;

EID: 79961069908     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH11-03-0149     Document Type: Article

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