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Article: Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families

TitleIdentification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families
Authors
FaiyazulHaque, MZaidi, SHEWahab, AAEltohami, AAlMureikhi, MSAlThani, GPeltekova, VDTsui, LCTeebi, AS
Issue Date2008
PublisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Citation
Clinical Genetics, 2008, v. 74 n. 2, p. 189-193 How to Cite?
DOI: http://dx.doi.org/10.1111/j.1399-0004.2008.01049.x
Persistent Identifierhttp://hdl.handle.net/10722/143353
ISSN
0009-9163
2023 Impact Factor: 2.9
2023 SCImago Journal Rankings: 1.236
ISI Accession Number ID
WOS:000257476200012
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorFaiyazulHaque, Men_HK
dc.contributor.authorZaidi, SHEen_HK
dc.contributor.authorWahab, AAen_HK
dc.contributor.authorEltohami, Aen_HK
dc.contributor.authorAlMureikhi, MSen_HK
dc.contributor.authorAlThani, Gen_HK
dc.contributor.authorPeltekova, VDen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorTeebi, ASen_HK
dc.date.accessioned2011-11-24T06:07:03Z-
dc.date.available2011-11-24T06:07:03Z-
dc.date.issued2008en_HK
dc.identifier.citationClinical Genetics, 2008, v. 74 n. 2, p. 189-193en_HK
dc.identifier.issn0009-9163en_HK
dc.identifier.urihttp://hdl.handle.net/10722/143353-
dc.languageeng-
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGEen_HK
dc.relation.ispartofClinical Geneticsen_HK
dc.rightsThe definitive version is available at www.blackwell-synergy.com-
dc.subject.meshArteries - abnormalities-
dc.subject.meshConnective Tissue Diseases - genetics-
dc.subject.meshDNA Mutational Analysis-
dc.subject.meshGlucose Transport Proteins, Facilitative - genetics-
dc.subject.meshMutation, Missense-
dc.titleIdentification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari familiesen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0009-9163&volume=74&issue=2&spage=189&epage=193&date=2008&atitle=Identification+of+a+p.Ser81Arg+encoding+mutation+in+SLC2A10+gene+of+arterial+tortuosity+syndrome+patients+from+10+Qatari+families+(Letter+to+the+Editor)-
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1111/j.1399-0004.2008.01049.xen_HK
dc.identifier.pmid18565096-
dc.identifier.scopuseid_2-s2.0-47149105278en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-47149105278&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume74en_HK
dc.identifier.issue2en_HK
dc.identifier.spage189en_HK
dc.identifier.epage193en_HK
dc.identifier.isiWOS:000257476200012-
dc.publisher.placeDenmarken_HK
dc.identifier.scopusauthoridFaiyazulHaque, M=6603280179en_HK
dc.identifier.scopusauthoridZaidi, SHE=7101670271en_HK
dc.identifier.scopusauthoridWahab, AA=7004905341en_HK
dc.identifier.scopusauthoridEltohami, A=6508175419en_HK
dc.identifier.scopusauthoridAlMureikhi, MS=6503930036en_HK
dc.identifier.scopusauthoridAlThani, G=6505789694en_HK
dc.identifier.scopusauthoridPeltekova, VD=6602092322en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridTeebi, AS=7004661664en_HK
dc.identifier.issnl0009-9163-

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