Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: Results of a genetic study in 14 families with factor XIII B deficiency

Haemophilia

Volumn 16, Issue 4, 2010, Pages 675-682

  Ivaskevicius, V ^a   Biswas, A ^a   Loreth, R ^b   Schroeder, V ^c   Ohlenforst, S ^a   Rott, H ^d   Krause, M ^e   Kohler, H P ^c   Scharrer, I ^f   Oldenburg, J ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b Westpfalz Klinikum GmbH   (Germany)

^c UNIVERSITY OF BERN   (Switzerland)

^d Lab Ambulance for Coagul Disord   (Germany)

^e DEUTSCHE KLINIK FÜR DIAGNOSTIK   (Germany)

^f UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

Factor XIII deficiency; FXIII A; FXIII B; Genotype; Mutational screening; Phenotype; Sushi domains

Indexed keywords

ARGININE; ASPARAGINE; BLOOD CLOTTING FACTOR 13B; CYSTEINE; GLUTAMIC ACID; GLUTAMINE; ISOLEUCINE; PHENYLALANINE; PROLINE; SERINE; VALINE;

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD CLOTTING FACTOR DEFICIENCY; BLOOD CLOTTING FACTOR XIII B DEFICIENCY; DISEASE SEVERITY; DISULFIDE BOND; F13B GENE; FEMALE; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GERMANY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

DNA MUTATIONAL ANALYSIS; FACTOR XIII; FACTOR XIII DEFICIENCY; FAMILY; FEMALE; GENOTYPE; GERMANY; HUMANS; MALE; MUTATION; PHENOTYPE;

EID: 77953218984     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2010.02207.x     Document Type: Article

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