Identification of a new mutation (Gly420Ser), distal to the active site, that leads to factor XIII deficiency

European Journal of Haematology

Volumn 65, Issue 4, 2000, Pages 279-284

  Kangsadalampai, Sasichai ^a   Yenchitsomanus, Pa Thai ^b,c   Chelvanayagam, Gareth ^d   Sawasdee, Nunghathai ^b   Laosombat, Vichai ^e   Board, Philip ^d  

^a THAMMASAT UNIVERSITY   (Thailand)

^b Division of Medical Molecular Biology   (Thailand)

^c MAHIDOL UNIVERSITY   (Thailand)

^d Biology and Environment   (Australia)

^e PRINCE OF SONGKLA UNIVERSITY   (Thailand)

Author keywords

Computer modeling; Factor XIII deficiency; Missense mutation; SSCP; Thai; Transglutaminase enzyme

Indexed keywords

BLOOD CLOTTING FACTOR 12; DNA; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

AMINO ACID SEQUENCE; ANIMAL TISSUE; ARTICLE; BLOOD CLOTTING FACTOR 12 DEFICIENCY; BLOOD CLOTTING FACTOR DEFICIENCY; CASE REPORT; CHILD; COMPUTER MODEL; DNA SEQUENCE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RAT; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SEQUENCE; BINDING SITES; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FACTOR XIII; FACTOR XIII DEFICIENCY; FAMILY HEALTH; HOMOZYGOTE; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PAKISTAN; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; PROTEIN SUBUNITS; SEQUENCE ALIGNMENT; STRUCTURE-ACTIVITY RELATIONSHIP; THAILAND;

EID: 0033819617     PISSN: 09024441     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0609.2000.065004279.x     Document Type: Article

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