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Article: Interaction between (-SEA) α-thalassemla deletion and uncommon non-deletional α-globin gene mutations in Chinese patients

TitleInteraction between (-SEA) α-thalassemla deletion and uncommon non-deletional α-globin gene mutations in Chinese patients
Authors
Ma, ESKDe Chow, EYChan, AYYChan, LC
Keywords(-sea) α-thalassemia deletion
Chinese
Hb H disease
Hb westmead
Poly-a signal mutation
Issue Date2001
Citation
Haematologica, 2001, v. 86 n. 5, p. 539-540 How to Cite?
AbstractWe describe the interaction of (-SEA) α-thalassemia deletion with poly-A signal mutation at the α2-globin gene in one Chinese family and with hemoglobin (Hb) Westmead α2 122 (H5) His→Gln] in another family, and show that the spectrum of non-deletional α-globin gene mutations encountered in our population is wider than previously reported.
Persistent Identifierhttp://hdl.handle.net/10722/148250
ISSN
0390-6078
2023 Impact Factor: 8.2
2023 SCImago Journal Rankings: 2.490
ISI Accession Number ID
WOS:000168808000017
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorMa, ESKen_US
dc.contributor.authorDe Chow, EYen_US
dc.contributor.authorChan, AYYen_US
dc.contributor.authorChan, LCen_US
dc.date.accessioned2012-05-29T06:11:47Z-
dc.date.available2012-05-29T06:11:47Z-
dc.date.issued2001en_US
dc.identifier.citationHaematologica, 2001, v. 86 n. 5, p. 539-540en_US
dc.identifier.issn0390-6078en_US
dc.identifier.urihttp://hdl.handle.net/10722/148250-
dc.description.abstractWe describe the interaction of (-SEA) α-thalassemia deletion with poly-A signal mutation at the α2-globin gene in one Chinese family and with hemoglobin (Hb) Westmead α2 122 (H5) His→Gln] in another family, and show that the spectrum of non-deletional α-globin gene mutations encountered in our population is wider than previously reported.en_US
dc.languageengen_US
dc.relation.ispartofHaematologicaen_US
dc.subject(-sea) α-thalassemia deletion-
dc.subjectChinese-
dc.subjectHb H disease-
dc.subjectHb westmead-
dc.subjectPoly-a signal mutation-
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshChilden_US
dc.subject.meshChinaen_US
dc.subject.meshFamily Healthen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenotypeen_US
dc.subject.meshGlobins - Geneticsen_US
dc.subject.meshHemoglobins, Abnormal - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutationen_US
dc.subject.meshSequence Deletionen_US
dc.subject.meshAlpha-Thalassemia - Geneticsen_US
dc.titleInteraction between (-SEA) α-thalassemla deletion and uncommon non-deletional α-globin gene mutations in Chinese patientsen_US
dc.typeArticleen_US
dc.identifier.emailChan, LC:chanlc@hkucc.hku.hken_US
dc.identifier.authorityChan, LC=rp00373en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid11410420en_US
dc.identifier.scopuseid_2-s2.0-0035349135en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0035349135&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume86en_US
dc.identifier.issue5en_US
dc.identifier.spage539en_US
dc.identifier.epage540en_US
dc.identifier.isiWOS:000168808000017-
dc.publisher.placeItalyen_US
dc.identifier.issnl0390-6078-

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