Genetic analysis of hereditary factor X deficiency in a French patient of Sri Lankan ancestry: In vitro expression study identified Gly366Ser substitution as the molecular basis of the dysfunctional factor X

Blood Coagulation and Fibrinolysis

Volumn 16, Issue 1, 2005, Pages 9-16

  Isshiki, Ikuko ^a   Favier, Remi ^b   Moriki, Takanori ^a   Uchida, Toshihiro ^c   Ishihara, Hiroaki ^c   Van Dreden, Patrick ^d   Murata, Mitsuru ^a   Ikeda, Yasuo ^a  

^a KEIO UNIVERSITY   (Japan)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c DAIICHI SANKYO CO   (Japan)

^d Serbio Research Laboratory   (France)

Author keywords

Cross reactive material positive factor X deficiency; Factor X Nagoya 2; Gly366Ser factor X mutant

Indexed keywords

BLOOD CLOTTING FACTOR 10; CROSS REACTING ANTIGEN; GENOMIC DNA; GLYCINE; MUTANT PROTEIN; SERINE; THROMBIN; VIPER VENOM;

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CASE REPORT; CELL STRAIN HEK293; CULTURE MEDIUM; EXON; FEMALE; FRANCE; GENE EXPRESSION; GENETIC ANALYSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; IN VITRO STUDY; INTRON; MOLECULAR MODEL; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SITE DIRECTED MUTAGENESIS;

AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR X; FACTOR X DEFICIENCY; FEMALE; FRANCE; GENE EXPRESSION; HOMOZYGOTE; HUMANS; POINT MUTATION;

EID: 12544250870     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001721-200501000-00002     Document Type: Article

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