Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function

Annals of hematology

Volumn 93, Issue 10, 2014, Pages 1665-1676

  Biswas, Arijit ^a   Ivaskevicius, Vytautas ^a   Thomas, Anne ^a   Varvenne, Michael ^a   Brand, Brigitte ^a   Rott, Hannelore ^a   Haussels, Iris ^a   Ruehl, Heiko ^a   Scholz, Ute ^a   Klamroth, Robert ^a   Oldenburg, Johannes ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 13; FACTOR XIII ACTIVATION PEPTIDE; FACTOR XIII SUBUNIT A; PEPTIDE; PROTEIN SUBUNIT;

ADULT; AMINO ACID SEQUENCE; BLOOD CLOTTING FACTOR 13 DEFICIENCY; CHEMISTRY; COMPUTER SIMULATION; ENZYME ACTIVE SITE; FEMALE; GENETICS; HEMORRHAGE; HETEROZYGOTE; HUMAN; MALE; METABOLISM; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POINT MUTATION; PROTEIN CONFORMATION; PROTEIN SUBUNIT; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; STRUCTURE ACTIVITY RELATION; X RAY CRYSTALLOGRAPHY; YOUNG ADULT;

ADULT; AMINO ACID SEQUENCE; CATALYTIC DOMAIN; COMPUTER SIMULATION; CONSERVED SEQUENCE; CRYSTALLOGRAPHY, X-RAY; FACTOR XIII; FACTOR XIII DEFICIENCY; FEMALE; HEMORRHAGE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEPTIDES; POINT MUTATION; PROTEIN CONFORMATION; PROTEIN SUBUNITS; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; STRUCTURE-ACTIVITY RELATIONSHIP; YOUNG ADULT;

EID: 85027934486     PISSN: None     EISSN: 14320584     Source Type: Journal    
DOI: 10.1007/s00277-014-2102-4     Document Type: Article

References (0)