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Article: Identification of the cystic fibrosis gene: Genetic analysis

TitleIdentification of the cystic fibrosis gene: Genetic analysis
Authors
Issue Date1989
PublisherAmerican Association for the Advancement of Science. The Journal's web site is located at http://sciencemag.org
Citation
Science, 1989, v. 245 n. 4922, p. 1073-1080 How to Cite?
AbstractApproximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific deletion of three base pairs, which results in the loss of a phenylalanine residue at amino acid position 508 of the putative product of the cystic fibrosis gene. Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations. A small set of these latter mutant alleles (about 8 percent) may confer residual pancreatic exocrine function in a subgroup of patients who are pancreatic sufficient. The ability to detect mutations in the cystic fibrosis gene at the DNA level has important implications for genetic diagnosis.
Persistent Identifierhttp://hdl.handle.net/10722/44236
ISSN
2015 Impact Factor: 34.661
2015 SCImago Journal Rankings: 13.217
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorKerem, BSen_HK
dc.contributor.authorRommens, JMen_HK
dc.contributor.authorBuchanan, JAen_HK
dc.contributor.authorMarkiewicz, Den_HK
dc.contributor.authorCox, TKen_HK
dc.contributor.authorChakravarti, Aen_HK
dc.contributor.authorBuchwald, Men_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:49:36Z-
dc.date.available2007-09-12T03:49:36Z-
dc.date.issued1989en_HK
dc.identifier.citationScience, 1989, v. 245 n. 4922, p. 1073-1080en_HK
dc.identifier.issn0036-8075en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44236-
dc.description.abstractApproximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific deletion of three base pairs, which results in the loss of a phenylalanine residue at amino acid position 508 of the putative product of the cystic fibrosis gene. Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations. A small set of these latter mutant alleles (about 8 percent) may confer residual pancreatic exocrine function in a subgroup of patients who are pancreatic sufficient. The ability to detect mutations in the cystic fibrosis gene at the DNA level has important implications for genetic diagnosis.en_HK
dc.languageengen_HK
dc.publisherAmerican Association for the Advancement of Science. The Journal's web site is located at http://sciencemag.orgen_HK
dc.relation.ispartofScienceen_HK
dc.rightsScience. Copyright © American Association for the Advancement of Science.en_HK
dc.subject.meshCystic fibrosis - diagnosis - enzymology - geneticsen_HK
dc.subject.meshDna mutational analysisen_HK
dc.subject.meshGenes, recessiveen_HK
dc.subject.meshGenetic markersen_HK
dc.subject.meshHaplotypesen_HK
dc.titleIdentification of the cystic fibrosis gene: Genetic analysisen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0036-8075&volume=245&issue=4922&spage=1073&epage=1080&date=1989&atitle=Identification+of+the+cystic+fibrosis+gene:+genetic+analysisen_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.pmid2570460-
dc.identifier.scopuseid_2-s2.0-0024423668en_HK
dc.identifier.volume245en_HK
dc.identifier.issue4922en_HK
dc.identifier.spage1073en_HK
dc.identifier.epage1080en_HK
dc.identifier.isiWOS:A1989AN70200027-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridKerem, BS=35376353800en_HK
dc.identifier.scopusauthoridRommens, JM=7006884140en_HK
dc.identifier.scopusauthoridBuchanan, JA=7202798142en_HK
dc.identifier.scopusauthoridMarkiewicz, D=7007146509en_HK
dc.identifier.scopusauthoridCox, TK=7203000117en_HK
dc.identifier.scopusauthoridChakravarti, A=35355137200en_HK
dc.identifier.scopusauthoridBuchwald, M=7006759922en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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