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Article: Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland | Analiza mutacji w genie CFTR u pacjentów z rozpoznana mukowiscydoza w Polsce.

TitleAnalysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland | Analiza mutacji w genie CFTR u pacjentów z rozpoznana mukowiscydoza w Polsce.
Authors
Issue Date2000
PublisherInstytut Matki i Dziecka.
Citation
Medycyna Wieku Rozwojowego, 2000, v. 4 n. 2, p. 149-159 How to Cite?
AbstractPolish CF patients were screened extensively for mutations in the CFTR gene. Screening data demonstrated a high heterogeneity of CFTR mutations in the Polish population. Total 30 different mutations were characterised in 24 exons or introns of the gene. Among them, six mutations have been reported for the first time and submitted to the CF Genetic Analysis Consortium. In addition, 15 different polymorphisms were found, including three new ones. The screening resulted in 9% increase of the detection rate of CFTR alleles in the tested population. Frequencies of two of the identified mutations (CFTRdele2,3 and 2184insA) are relatively high (2.6% and 1%, respectively) and justify their inclusion into routinely screened mutations in genetic testing of Polish CF population.
Persistent Identifierhttp://hdl.handle.net/10722/44363
ISSN
2014 SCImago Journal Rankings: 0.181

 

DC FieldValueLanguage
dc.contributor.authorAznarez, Ien_HK
dc.contributor.authorBal, Jen_HK
dc.contributor.authorCasals, Ten_HK
dc.contributor.authorEstivill, Xen_HK
dc.contributor.authorMoral, Nen_HK
dc.contributor.authorSands, Den_HK
dc.contributor.authorNunes, Ven_HK
dc.contributor.authorSobczyńskaTomaszewska, Aen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorZielenski, Jen_HK
dc.date.accessioned2007-09-12T03:52:08Z-
dc.date.available2007-09-12T03:52:08Z-
dc.date.issued2000en_HK
dc.identifier.citationMedycyna Wieku Rozwojowego, 2000, v. 4 n. 2, p. 149-159en_HK
dc.identifier.issn1428-345Xen_HK
dc.identifier.urihttp://hdl.handle.net/10722/44363-
dc.description.abstractPolish CF patients were screened extensively for mutations in the CFTR gene. Screening data demonstrated a high heterogeneity of CFTR mutations in the Polish population. Total 30 different mutations were characterised in 24 exons or introns of the gene. Among them, six mutations have been reported for the first time and submitted to the CF Genetic Analysis Consortium. In addition, 15 different polymorphisms were found, including three new ones. The screening resulted in 9% increase of the detection rate of CFTR alleles in the tested population. Frequencies of two of the identified mutations (CFTRdele2,3 and 2184insA) are relatively high (2.6% and 1%, respectively) and justify their inclusion into routinely screened mutations in genetic testing of Polish CF population.en_HK
dc.languageengen_HK
dc.publisherInstytut Matki i Dziecka.en_HK
dc.relation.ispartofMedycyna wieku rozwojowegoen_HK
dc.subject.meshCystic Fibrosis - geneticsen_HK
dc.subject.meshCystic Fibrosis Transmembrane Conductance Regulator - geneticsen_HK
dc.subject.meshMutationen_HK
dc.subject.meshDNA - isolation & purificationen_HK
dc.subject.meshPolymorphism, Geneticen_HK
dc.titleAnalysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland | Analiza mutacji w genie CFTR u pacjentów z rozpoznana mukowiscydoza w Polsce.en_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.natureabstracten_HK
dc.identifier.pmid11013869en_HK
dc.identifier.scopuseid_2-s2.0-0034169613en_HK
dc.identifier.volume4en_HK
dc.identifier.issue2en_HK
dc.identifier.spage149en_HK
dc.identifier.epage159en_HK
dc.publisher.placePolanden_HK
dc.identifier.scopusauthoridAznarez, I=6506570199en_HK
dc.identifier.scopusauthoridBal, J=7006084917en_HK
dc.identifier.scopusauthoridCasals, T=7005777083en_HK
dc.identifier.scopusauthoridEstivill, X=36047834200en_HK
dc.identifier.scopusauthoridMoral, N=6506729056en_HK
dc.identifier.scopusauthoridSands, D=7101686401en_HK
dc.identifier.scopusauthoridNunes, V=7103263255en_HK
dc.identifier.scopusauthoridSobczyńskaTomaszewska, A=6507645911en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK

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