Factor XDebrecen: Gly204Arg mutation in factor X causes the synthesis of a non-secretable protein and severe factor X deficiency

Haematologica

Volumn 93, Issue 2, 2008, Pages 299-302

  Bereczky, Zsuzsanna ^a   Bárdos, Helga ^a   Komáromi, István ^a   Kiss, Csongor ^a   Haramura, Gizella ^a   Ajzner, Éva ^a   Ádány, Róza ^a   Muszbek, László ^a  

^a UNIVERSITY OF DEBRECEN   (Hungary)

Author keywords

F10 mutation; Factor X; Factor X deficiency; Inherited bleeding diathesis; Rare coagulopathy

Indexed keywords

BLOOD CLOTTING FACTOR 10; DISULFIDE;

ARTICLE; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CASE REPORT; CHILD; DISEASE SEVERITY; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE MUTATION; GENE SYNTHESIS; GENETIC ANALYSIS; HUMAN; MALE; AMINO ACID SUBSTITUTION; CELL LINE; ENDOSOME; GENETIC TRANSFECTION; GENETICS; GOLGI COMPLEX; HOMOZYGOTE; INFANT; METABOLISM; MISSENSE MUTATION; PROTEIN TERTIARY STRUCTURE; SECRETION;

AMINO ACID SUBSTITUTION; CELL LINE; DISULFIDES; ENDOSOMES; FACTOR X; FACTOR X DEFICIENCY; GOLGI APPARATUS; HOMOZYGOTE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; TRANSFECTION;

EID: 40849142419     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.11746     Document Type: Article

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