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Article: ADAMTS13 mutational analysis in Chinese patients with chronic relapsing thrombotic thrombocytopenic purpura

TitleADAMTS13 mutational analysis in Chinese patients with chronic relapsing thrombotic thrombocytopenic purpura
Authors
KeywordsADAMTS13
Mutation
Thrombotic thrombocytopenic purpura
vWF-cleaving protease
Issue Date2006
PublisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
Citation
Hong Kong Journal Of Paediatrics, 2006, v. 11 n. 1, p. 22-27 How to Cite?
AbstractMutational analysis of ADAMTS13 gene was performed on three Chinese children with chronic relapsing thrombotic thrombocytopenic purpura, who all showed severe deficiency (<5% activity) of von Willebrand factor-cleaving protease (vWF-CP) and lack of inhibitors. In two patients, three new mutations, namely G194V, R349C and G1181R, were identified along with a fourth mutation A596V recently described in a French patient. No significant ADAMTS13 gene defect was detected in one patient, in whom the presence of low titer or non-neutralizing antibodies to vWF-CP was not excluded. The prevalence of G194V and G1181R mutations was 1.5% and 5.8% among normal Chinese subjects. They may constitute genetic susceptibility factors for thrombosis in the population.
Persistent Identifierhttp://hdl.handle.net/10722/79964
ISSN
2015 Impact Factor: 0.194
2015 SCImago Journal Rankings: 0.123
References

 

DC FieldValueLanguage
dc.contributor.authorMa, ESKen_HK
dc.contributor.authorLi, YHen_HK
dc.contributor.authorKwok, JSYen_HK
dc.contributor.authorLing, SCen_HK
dc.contributor.authorYau, PWen_HK
dc.contributor.authorChan, GCFen_HK
dc.date.accessioned2010-09-06T08:00:49Z-
dc.date.available2010-09-06T08:00:49Z-
dc.date.issued2006en_HK
dc.identifier.citationHong Kong Journal Of Paediatrics, 2006, v. 11 n. 1, p. 22-27en_HK
dc.identifier.issn1013-9923en_HK
dc.identifier.urihttp://hdl.handle.net/10722/79964-
dc.description.abstractMutational analysis of ADAMTS13 gene was performed on three Chinese children with chronic relapsing thrombotic thrombocytopenic purpura, who all showed severe deficiency (<5% activity) of von Willebrand factor-cleaving protease (vWF-CP) and lack of inhibitors. In two patients, three new mutations, namely G194V, R349C and G1181R, were identified along with a fourth mutation A596V recently described in a French patient. No significant ADAMTS13 gene defect was detected in one patient, in whom the presence of low titer or non-neutralizing antibodies to vWF-CP was not excluded. The prevalence of G194V and G1181R mutations was 1.5% and 5.8% among normal Chinese subjects. They may constitute genetic susceptibility factors for thrombosis in the population.en_HK
dc.languageengen_HK
dc.publisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.aspen_HK
dc.relation.ispartofHong Kong Journal of Paediatricsen_HK
dc.subjectADAMTS13en_HK
dc.subjectMutationen_HK
dc.subjectThrombotic thrombocytopenic purpuraen_HK
dc.subjectvWF-cleaving proteaseen_HK
dc.titleADAMTS13 mutational analysis in Chinese patients with chronic relapsing thrombotic thrombocytopenic purpuraen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1013-9923&volume=11&spage=22&epage=27&date=2006&atitle=ADAMTS13+Mutational+Analysis+in+Chinese+Patients+with+Chronic+Relapsing+Thrombotic+Thrombocytopenic+Purpuraen_HK
dc.identifier.emailChan, GCF:gcfchan@hkucc.hku.hken_HK
dc.identifier.authorityChan, GCF=rp00431en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.scopuseid_2-s2.0-31344462630en_HK
dc.identifier.hkuros114550en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-31344462630&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume11en_HK
dc.identifier.issue1en_HK
dc.identifier.spage22en_HK
dc.identifier.epage27en_HK
dc.publisher.placeHong Kongen_HK
dc.identifier.scopusauthoridMa, ESK=7202039934en_HK
dc.identifier.scopusauthoridLi, YH=36013559400en_HK
dc.identifier.scopusauthoridKwok, JSY=7006208874en_HK
dc.identifier.scopusauthoridLing, SC=7102701299en_HK
dc.identifier.scopusauthoridYau, PW=36896628500en_HK
dc.identifier.scopusauthoridChan, GCF=16160154400en_HK

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