Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease

PLoS ONE

Volumn 7, Issue 3, 2012, Pages

  Dong, Jing ^a,c   Zhao, Xiaojuan ^a,c   Shi, Sensen ^a   Ma, Zhenni ^a   Liu, Meng ^a   Wu, Qingyu ^a,b   Ruan, Changgeng ^a,c   Dong, Ningzheng ^a,c  

^a SOOCHOW UNIVERSITY   (China)

^b LERNER RESEARCH INSTITUTE   (United States)

^c THE FIRST AFFILIATED HOSPITAL OF SOOCHOW UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; VON WILLEBRAND FACTOR;

ANTIGEN FUNCTION; ARTICLE; BASE PAIRING; BLEEDING; CARBOXY TERMINAL SEQUENCE; CELL LEVEL; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; EXON; GENE; GENE DELETION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MEDICAL HISTORY; MUTANT; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN SECRETION; PROTEIN SYNTHESIS; PROTEIN TRANSPORT; SEQUENCE ANALYSIS; VON WILLEBRAND DISEASE; VWF GENE; WILD TYPE; BLOOD; CASE REPORT; CELL STRAIN HEK293; CHILD; FAMILY HEALTH; FEMALE; GENETICS; MALE; METABOLISM; MUTATION; PEDIGREE;

BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; HEK293 CELLS; HEMORRHAGE; HUMANS; MALE; MUTATION; PEDIGREE; SEQUENCE DELETION; VON WILLEBRAND DISEASE, TYPE 2; VON WILLEBRAND FACTOR;

EID: 84858978665     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0033263     Document Type: Article

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