A dysfunctional factor X (Factor X San Giovanni Rotondo) present at homozygous and double heterozygous level: Identification of a novel microdeletion (delC556) and missense mutation (Lys408 → Asn) in the factor X gene: A study of an Italian family

Thrombosis Research

Volumn 101, Issue 4, 2001, Pages 219-230

  Simioni, Paolo ^a   Vianello, Fabrizio ^a   Kalafatis, Michael ^b,c   Barzon, Luisa ^a   Ladogana, Saverio ^d   Paolucci, Paolo ^d   Carotenuto, Mario ^d   Dal Bello, Federico ^a   Palù, Giorgio ^a   Girolami, Antonio ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b CLEVELAND STATE UNIVERSITY   (United States)

^c LERNER RESEARCH INSTITUTE   (United States)

^d Department of Radiology   (Italy)

Author keywords

Factor X deficiency; Family study; Genetics; Haemorrhagic disorder; Mutation

Indexed keywords

BLOOD CLOTTING FACTOR 10;

ACUTE LYMPHOBLASTIC LEUKEMIA; AMINO ACID SUBSTITUTION; ARTICLE; BLEEDING DISORDER; BLOOD CLOTTING; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CASE REPORT; ENZYME LINKED IMMUNOSORBENT ASSAY; FAMILY STUDY; GENE DELETION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNOBLOTTING; MALE; MISSENSE MUTATION; PEDIGREE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD, PRESCHOOL; CODON, TERMINATOR; DNA; DNA MUTATIONAL ANALYSIS; FACTOR X; FACTOR X DEFICIENCY; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ITALY; LEUKEMIA, LYMPHOCYTIC, ACUTE; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEQUENCE DELETION; VARIATION (GENETICS);

EID: 0035864757     PISSN: 00493848     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0049-3848(00)00406-0     Document Type: Article

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