L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: An analysis of two patients with type 2A von Willebrand disease

Haemophilia

Volumn 14, Issue 3, 2008, Pages 556-563

  Kashiwagi, T ^a   Matsushita, Tadashi ^a   Ito, Y ^a   Hirashima, K ^a   Sanda, N ^a   Fujimori, Y ^a   Yamada, T ^a   Okumura, K ^a   Takagi, A ^a,b   Murate, T ^a,b   Katsumi, A ^a   Takamatsu, J ^c   Yamamoto, K ^c   Naoe, T ^a   Kojima, T ^a,b  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NAGOYA UNIVERSITY   (Japan)

^c NAGOYA UNIVERSITY HOSPITAL   (Japan)

Author keywords

Dominant inheritance; Group; Mutation; Type 2A; Von Willebrand disease; Von Willebrand factor

Indexed keywords

COMPLEMENTARY DNA; MUTANT PROTEIN; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

ARTICLE; CASE REPORT; CELL LYSATE; CELL STRAIN HEK293; DNA TRANSFECTION; DOMINANT INHERITANCE; EMBRYO; GENE EXPRESSION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; MOLECULAR DYNAMICS; NUCLEIC ACID BASE SUBSTITUTION; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN SECRETION; PROTEIN STABILITY; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; VON WILLEBRAND DISEASE; WILD TYPE;

ADOLESCENT; AMINO ACID SUBSTITUTION; DEAMINO ARGININE VASOPRESSIN; DNA MUTATIONAL ANALYSIS; EPISTAXIS; EXONS; FEMALE; GENE EXPRESSION; HEMOSTASIS; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR BIOLOGY; MUTATION; PLATELET ADHESIVENESS; POLYMERASE CHAIN REACTION; RECOMBINANT PROTEINS; STRUCTURE-ACTIVITY RELATIONSHIP; TRANSFECTION; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 43149110173     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01703.x     Document Type: Article

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