Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder

Thrombosis and Haemostasis

Volumn 95, Issue 1, 2006, Pages 77-84

  Schroeder, Verena ^a   Meili, Esther ^b   Cung, Trinh ^a   Schmutz, Peter ^a   Kohler, Hans P ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b UNIVERSITY HOSPITAL ZURICH   (Switzerland)

Author keywords

Coagulation factor XIII; Congenital FXIII deficiency; FXIII A subunit gene

Indexed keywords

ANTIGEN; ARGININE; BLOOD CLOTTING FACTOR 13 CONCENTRATE; BLOOD CLOTTING FACTOR 13A; BLOOD CLOTTING FACTOR 13B; GLUTAMIC ACID; GLYCINE; HISTIDINE; MESSENGER RNA; METHIONINE; TRYPTOPHAN;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD CLOTTING FACTOR 13 DEFICIENCY; CELL STRAIN COS1; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME STRUCTURE; EXON; FEMALE; GENE DELETION; GENETIC SCREENING; HUMAN; INTRON; MALE; MISSENSE MUTATION; MOLECULAR DYNAMICS; MUTANT; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING; SEQUENCE ANALYSIS; SITE DIRECTED MUTAGENESIS; STOP CODON; WILD TYPE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FACTOR VIII; FACTOR XIII DEFICIENCY; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN CONFORMATION; SWITZERLAND;

EID: 33645539709     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH05-06-0388     Document Type: Article

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