Identification of a novel amino acid deletion mutation and a very rare single nucleotide variant in a Japanese family with type I antithrombin deficiency

Thrombosis Research

Volumn 116, Issue 3, 2005, Pages 215-221

  Katayama, Kan ^a   Hashimoto, Natsuko ^b   Tanaka, Yuki ^b   Ozawa, Tetsuo ^c   Emi, Yoshiharu ^a   Ikeda, Takeshi ^a   Katayama, Miyuki ^d   Nomura, Shinsuke ^e   Kitajima, Isao ^c   Nakano, Takeshi ^e   Imanaka, Tsuneo ^b  

^a Ise Municipal Hospital   (Japan)

^b UNIVERSITY OF TOYAMA   (Japan)

^c TOYAMA MEDICAL AND PHARMACEUTICAL UNIVERSITY   (Japan)

^d AICHI CANCER CENTER HOSPITAL   (Japan)

^e MIE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Antithrombin deficiency; Deep vein thrombosis; In frame deletion; Intracellular degradation; Nucleotide substitution

Indexed keywords

ADENINE NUCLEOTIDE; AMINO ACID; DNA; GUANINE NUCLEOTIDE; LUCIFERASE; METHIONINE; THROMBIN;

ADULT; AMINO ACID SUBSTITUTION; ANTITHROMBIN DEFICIENCY; ARTICLE; CASE REPORT; CODON; DELETION MUTANT; DNA DETERMINATION; ENZYME ACTIVITY; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOSS; GENETIC VARIABILITY; HEPATOMA CELL; HERITABILITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL; PROTEIN DEGRADATION; WILD TYPE;

ADULT; ANTITHROMBIN III; ANTITHROMBIN III DEFICIENCY; BIOLOGICAL TRANSPORT; BLOOD COAGULATION DISORDERS, INHERITED; CELL LINE, TUMOR; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENE EXPRESSION REGULATION; HUMANS; JAPAN; MALE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION; TRANSFECTION;

EID: 20144380189     PISSN: 00493848     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.thromres.2004.12.004     Document Type: Article

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