Identification of a new Leu354Pro mutation responsible for factor XIII deficiency

European Journal of Haematology

Volumn 66, Issue 2, 2001, Pages 133-136

  Anwar, Rashida ^a,c   Gallivan, Louise ^a   Trinh, Chi H ^a   Hill, Frank G H ^b   Markham, Alexander F ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^c ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

Factor XIII; FXIII deficiency; FXIIIA structure; Missense mutation; Transglutaminase

Indexed keywords

BLOOD CLOTTING FACTOR 13; LEUCINE; PROLINE;

ADULT; ARTICLE; BLOOD CLOTTING FACTOR 13 DEFICIENCY; CASE REPORT; CLINICAL FEATURE; CODON; FEMALE; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; HOMOZYGOTE; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; STRUCTURE ANALYSIS;

ADULT; AMINO ACID SUBSTITUTION; DNA MUTATIONAL ANALYSIS; FACTOR VIIIA; FACTOR XIII DEFICIENCY; FAMILY HEALTH; FEMALE; HOMOZYGOTE; HUMANS; MODELS, MOLECULAR; PAKISTAN; PARENTS; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEIN STRUCTURE, TERTIARY;

EID: 0035121444     PISSN: 09024441     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0609.2001.00370.x     Document Type: Article

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