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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.
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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.
 
AuthorsAznarez, I1
Bal, J1
Casals, T1
Estivill, X1
Moral, N1
Sands, D1
Nunes, V1
SobczyńskaTomaszewska, A1
Tsui, LC1
Zielenski, J1
 
Issue Date2000
 
PublisherInstytut Matki i Dziecka.
 
CitationMedycyna 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.
 
ISSN1428-345X
2012 SCImago Journal Rankings: 0.113
 
DC FieldValue
dc.contributor.authorAznarez, I
 
dc.contributor.authorBal, J
 
dc.contributor.authorCasals, T
 
dc.contributor.authorEstivill, X
 
dc.contributor.authorMoral, N
 
dc.contributor.authorSands, D
 
dc.contributor.authorNunes, V
 
dc.contributor.authorSobczyńskaTomaszewska, A
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorZielenski, J
 
dc.date.accessioned2007-09-12T03:52:08Z
 
dc.date.available2007-09-12T03:52:08Z
 
dc.date.issued2000
 
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.
 
dc.description.natureabstract
 
dc.identifier.citationMedycyna Wieku Rozwojowego, 2000, v. 4 n. 2, p. 149-159 [How to Cite?]
 
dc.identifier.epage159
 
dc.identifier.issn1428-345X
2012 SCImago Journal Rankings: 0.113
 
dc.identifier.issue2
 
dc.identifier.pmid11013869
 
dc.identifier.scopuseid_2-s2.0-0034169613
 
dc.identifier.spage149
 
dc.identifier.urihttp://hdl.handle.net/10722/44363
 
dc.identifier.volume4
 
dc.languageeng
 
dc.publisherInstytut Matki i Dziecka.
 
dc.publisher.placePoland
 
dc.relation.ispartofMedycyna wieku rozwojowego
 
dc.subject.meshCystic Fibrosis - genetics
 
dc.subject.meshCystic Fibrosis Transmembrane Conductance Regulator - genetics
 
dc.subject.meshMutation
 
dc.subject.meshDNA - isolation & purification
 
dc.subject.meshPolymorphism, Genetic
 
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.
 
dc.typeArticle
 
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<contributor.author>Bal, J</contributor.author>
<contributor.author>Casals, T</contributor.author>
<contributor.author>Estivill, X</contributor.author>
<contributor.author>Moral, N</contributor.author>
<contributor.author>Sands, D</contributor.author>
<contributor.author>Nunes, V</contributor.author>
<contributor.author>Sobczy&#324;skaTomaszewska, A</contributor.author>
<contributor.author>Tsui, LC</contributor.author>
<contributor.author>Zielenski, J</contributor.author>
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<description.abstract>Polish 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.</description.abstract>
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Author Affiliations
  1. Hospital for Sick Children University of Toronto