Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation

Blood Coagulation and Fibrinolysis

Volumn 22, Issue 4, 2011, Pages 337-339

  Nakao, Takafumi ^a   Yamane, Takahisa ^a   Katagami, Tomoko ^a   Shiota, Masayuki ^a   Izumi, Yasukatsu ^a   Samori, Tomohiro ^a   Hino, Masayuki ^a   Iwao, Hiroshi ^a  

^a OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

activated partial thromboplastin time; idiopathic thrombocytopenic purpura; mutation; prekallikrein deficiency

Indexed keywords

PREKALLIKREIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD CELL COUNT; BLOOD CLOTTING TEST; BONE MARROW EXAMINATION; CASE REPORT; CYTOGENETICS; DISEASE ASSOCIATION; DISEASE SEVERITY; GENE SEQUENCE; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; MALE; NONSENSE MUTATION; PREKALLIKREIN DEFICIENCY; PRIORITY JOURNAL;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CODON, NONSENSE; HOMOZYGOTE; HUMANS; MALE; PARTIAL THROMBOPLASTIN TIME; POLYMERASE CHAIN REACTION; PREKALLIKREIN; PURPURA, THROMBOCYTOPENIC, IDIOPATHIC; SEQUENCE ANALYSIS, DNA;

EID: 79955957374     PISSN: 09575235     EISSN: 14735733     Source Type: Journal    
DOI: 10.1097/MBC.0b013e3283444ddb     Document Type: Article

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