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Article: Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

TitleIdentification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Authors
Zielenski, JMarkiewicz, DChen, HSSchappert, KSeller, ADurie, PCorey, MTsui, LC
KeywordsCFTR
Cystic fibrosis
Mutation
SSCP
Issue Date1995
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Citation
Human Mutation, 1995, v. 5 n. 1, p. 43-47 How to Cite?
DOI: http://dx.doi.org/10.1002/humu.1380050106
AbstractSix new mutations have been identified in the CFTR gene. These mutations, representing three different categories-missense (R31L, W1098R), nonsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)-are located in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cystic fibrosis (CF) in patients. All these mutations are probably rare in the population, as no additional examples were found for any of them in a cohort of 545 CF patients. Our study also revealed a benign sequence variation (3499 + 45T→C) in intron 17b.
Persistent Identifierhttp://hdl.handle.net/10722/44281
ISSN
1059-7794
2023 Impact Factor: 3.3
2023 SCImago Journal Rankings: 1.686
ISI Accession Number ID
WOS:A1995QC24400005

 

DC FieldValueLanguage
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorMarkiewicz, Den_HK
dc.contributor.authorChen, HSen_HK
dc.contributor.authorSchappert, Ken_HK
dc.contributor.authorSeller, Aen_HK
dc.contributor.authorDurie, Pen_HK
dc.contributor.authorCorey, Men_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:50:33Z-
dc.date.available2007-09-12T03:50:33Z-
dc.date.issued1995en_HK
dc.identifier.citationHuman Mutation, 1995, v. 5 n. 1, p. 43-47en_HK
dc.identifier.issn1059-7794en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44281-
dc.description.abstractSix new mutations have been identified in the CFTR gene. These mutations, representing three different categories-missense (R31L, W1098R), nonsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)-are located in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cystic fibrosis (CF) in patients. All these mutations are probably rare in the population, as no additional examples were found for any of them in a cohort of 545 CF patients. Our study also revealed a benign sequence variation (3499 + 45T→C) in intron 17b.en_HK
dc.languageengen_HK
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515en_HK
dc.relation.ispartofHuman Mutationen_HK
dc.subjectCFTRen_HK
dc.subjectCystic fibrosisen_HK
dc.subjectMutationen_HK
dc.subjectSSCPen_HK
dc.subject.meshCystic fibrosis - geneticsen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulatoren_HK
dc.subject.meshDna mutational analysisen_HK
dc.subject.meshDna, single-stranded - chemistry - geneticsen_HK
dc.subject.meshFrameshift mutationen_HK
dc.titleIdentification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) geneen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1002/humu.1380050106en_HK
dc.identifier.pmid7537150-
dc.identifier.scopuseid_2-s2.0-0028896459en_HK
dc.identifier.volume5en_HK
dc.identifier.issue1en_HK
dc.identifier.spage43en_HK
dc.identifier.epage47en_HK
dc.identifier.isiWOS:A1995QC24400005-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridMarkiewicz, D=7007146509en_HK
dc.identifier.scopusauthoridChen, HS=16169456100en_HK
dc.identifier.scopusauthoridSchappert, K=35884962200en_HK
dc.identifier.scopusauthoridSeller, A=6603218661en_HK
dc.identifier.scopusauthoridDurie, P=7005360997en_HK
dc.identifier.scopusauthoridCorey, M=7005819978en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.issnl1059-7794-

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