A novel homozygous missense ADAMTS13 mutation Y658C in a patient with recurrent thrombotic thrombocytopenic purpura

Annals of Clinical and Laboratory Science

Volumn 41, Issue 3, 2011, Pages 273-276

  Lee, Seon Ho ^a   Park, Jae Hoo ^a   Park, Sang Kyu ^a   Lee, Eun Hee ^b   Choi, Jung In ^a   Visentin, Gian Paolo ^c   Park, Tae Sung ^d   Oh, Seung Hwan ^e   Kim, Sung Ryul ^a  

^a University of Ulsan College of Medicine   (South Korea)

^b Green Cross Reference Laboratory   (South Korea)

^c GTI Diagnostics   (United States)

^d Kyung Hee University Hospital   (South Korea)

^e Inje University College of Medicine   (South Korea)

Author keywords

ADAMTS13; Missense mutation; Pregnancy; Thrombotic thrombocytopenic purpura

Indexed keywords

BILIRUBIN; LACTATE DEHYDROGENASE; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

ADULT; ARTICLE; BILIRUBIN BLOOD LEVEL; BLOOD TRANSFUSION; CLINICAL ARTICLE; DISEASE SEVERITY; DNA FLANKING REGION; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; LACTATE DEHYDROGENASE BLOOD LEVEL; LEUKOCYTE COUNT; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PLASMAPHERESIS; PREGNANCY; PRIORITY JOURNAL; RECURRENT DISEASE; RETICULOCYTE; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE COUNT; THROMBOTIC THROMBOCYTOPENIC PURPURA;

ADAM PROTEINS; ADULT; BASE SEQUENCE; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PREGNANCY; PURPURA, THROMBOTIC THROMBOCYTOPENIC; RECURRENCE; REFERENCE VALUES;

EID: 84855380521     PISSN: 00917370     EISSN: 15508080     Source Type: Journal    
DOI: None     Document Type: Article

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