File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: The spectrum of cystic fibrosis mutations

TitleThe spectrum of cystic fibrosis mutations
Authors
Issue Date1992
PublisherElsevier Ltd, Trends Journals. The Journal's web site is located at http://www.elsevier.com/locate/tig
Citation
Trends In Genetics, 1992, v. 8 n. 11, p. 392-398 How to Cite?
AbstractAlthough the major mutation causing cystic fibrosis accounts for almost 70% of mutant chromosomes screened, almost 300 sequence alterations have been identified in the gene during the past two and a half years. At least 230 of these mutations are probably associated with disease. This rapid accumulation of data is in part due to the highly coordinated effort by members of the Cystic Fibrosis Genetic Analysis Consortium. The information is not only essential to genetic diagnosis, but also will aid in understanding the structure and function of the protein, and possibly in correlating genotype with phenotype.
Persistent Identifierhttp://hdl.handle.net/10722/143713
ISSN
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2011-12-16T09:14:04Z-
dc.date.available2011-12-16T09:14:04Z-
dc.date.issued1992en_HK
dc.identifier.citationTrends In Genetics, 1992, v. 8 n. 11, p. 392-398en_HK
dc.identifier.issn0168-9479en_HK
dc.identifier.urihttp://hdl.handle.net/10722/143713-
dc.description.abstractAlthough the major mutation causing cystic fibrosis accounts for almost 70% of mutant chromosomes screened, almost 300 sequence alterations have been identified in the gene during the past two and a half years. At least 230 of these mutations are probably associated with disease. This rapid accumulation of data is in part due to the highly coordinated effort by members of the Cystic Fibrosis Genetic Analysis Consortium. The information is not only essential to genetic diagnosis, but also will aid in understanding the structure and function of the protein, and possibly in correlating genotype with phenotype.en_HK
dc.languageeng-
dc.publisherElsevier Ltd, Trends Journals. The Journal's web site is located at http://www.elsevier.com/locate/tig-
dc.relation.ispartofTrends in Geneticsen_HK
dc.subject.meshCystic Fibrosis - genetics-
dc.subject.meshCystic Fibrosis Transmembrane Conductance Regulator-
dc.subject.meshIon Channels - genetics-
dc.subject.meshMembrane Proteins - genetics - ultrastructure-
dc.subject.meshMutation-
dc.titleThe spectrum of cystic fibrosis mutationsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0168-9525&volume=8&issue=11&spage=392&epage=398&date=1992&atitle=The+spectrum+of+cystic+fibrosis+mutations-
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/0168-9525(92)90301-J-
dc.identifier.pmid1279852-
dc.identifier.scopuseid_2-s2.0-0026641782en_HK
dc.identifier.volume8en_HK
dc.identifier.issue11en_HK
dc.identifier.spage392en_HK
dc.identifier.epage398en_HK
dc.identifier.isiWOS:A1992JW06300008-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats