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Article: Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium

TitleMutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium
Authors
KeywordsCFTR
Consortium
Cystic fibrosis
Mutation
Issue Date1992
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Citation
Human Mutation, 1992, v. 1 n. 3, p. 197-203 How to Cite?
AbstractCystic fibrosis is the most common autosomal disorder in the Caucasian population. Since the description of the major mutation of this disease in 1989, over 150 of additional mutations have been identified in the CFTR gene. This update summarizes the different mutations identified and reported before March 15 by members of the international Cystic Fibrosis Genetic Analysis Consortium. The report includes information on DNA sequence variations found in the gene. © 1992 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/143450
ISSN
2015 Impact Factor: 5.089
2015 SCImago Journal Rankings: 3.670
References

 

DC FieldValueLanguage
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2011-11-25T04:29:53Z-
dc.date.available2011-11-25T04:29:53Z-
dc.date.issued1992en_HK
dc.identifier.citationHuman Mutation, 1992, v. 1 n. 3, p. 197-203en_HK
dc.identifier.issn1059-7794en_HK
dc.identifier.urihttp://hdl.handle.net/10722/143450-
dc.description.abstractCystic fibrosis is the most common autosomal disorder in the Caucasian population. Since the description of the major mutation of this disease in 1989, over 150 of additional mutations have been identified in the CFTR gene. This update summarizes the different mutations identified and reported before March 15 by members of the international Cystic Fibrosis Genetic Analysis Consortium. The report includes information on DNA sequence variations found in the gene. © 1992 Wiley-Liss, Inc.en_HK
dc.languageeng-
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.rightsHuman Mutation. Copyright © John Wiley & Sons, Inc.-
dc.subjectCFTRen_HK
dc.subjectConsortiumen_HK
dc.subjectCystic fibrosisen_HK
dc.subjectMutationen_HK
dc.subject.meshCystic Fibrosis - genetics-
dc.subject.meshCystic Fibrosis Transmembrane Conductance Regulator-
dc.subject.meshDNA - genetics-
dc.subject.meshMembrane Proteins - genetics-
dc.subject.meshMutation-
dc.titleMutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortiumen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1059-7794&volume=1&issue=3&spage=197&epage=203&date=1992&atitle=Mutations+and+sequence+variations+detected+in+the+cystic+fibrosis+transmembrane+conductance+regulator+(CFTR)+gene:+a+report+from+the+cystic+fibrosis+genetic+analysis+consortium-
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/humu.1380010304-
dc.identifier.pmid1284534-
dc.identifier.scopuseid_2-s2.0-0027034365en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0027034365&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume1en_HK
dc.identifier.issue3en_HK
dc.identifier.spage197en_HK
dc.identifier.epage203en_HK
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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