Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy

Thrombosis and Haemostasis

Volumn 107, Issue 4, 2012, Pages 673-680

  Castaldo, Giuseppe ^a,b   Cerbone, Anna Maria ^c   Guida, Anna ^c   Tandurella, Igor ^a,b   Ingino, Rosaria ^a,b   Tufano, Antonella ^c   Ceglia, Carlo ^a,b   di Minno, Matteo Nicola Dario ^c   Ruocco, Anna Lilia ^c   di Minno, Giovanni ^c  

^a CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^b Dipartimento di Biochimica e Biotecnologie Mediche   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Antithrombin; Highly conserved residues; Mutations; Serpins; Thrombosis

Indexed keywords

ADULT; AGED; ANTITHROMBIN DEFICIENCY; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION MUTANT; FEMALE; FRAMESHIFT MUTATION; GENE; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; ITALY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SERPINC1 GENE; SPLICING DEFECT; STOP CODON;

ADULT; AGED; ANTITHROMBIN III; ANTITHROMBIN III DEFICIENCY; CODON; FEMALE; GENE DELETION; GENETIC ASSOCIATION STUDIES; GENOTYPE; HETEROZYGOTE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PHENOTYPE; VENOUS THROMBOSIS;

EID: 84859294001     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH11-09-0671     Document Type: Article

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