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Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AA -> G shows a severe phenotype

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dc.contributor.authorsKilinc, MO; Ninis, VN; Tolun, A; Estivill, X; Casals, T; Savov, A; Dagli, E; Karakoc, F; Demirkol, M; Huner, G; Ozkinay, F; Demir, E; Seculi, JL; Pena, J; Bousono, C; Ferrer-Calvete, J; Calvo, C; Glover, G; Kremenski, I
dc.date.accessioned2022-03-11T23:50:27Z
dc.date.accessioned2026-01-11T14:14:36Z
dc.date.available2022-03-11T23:50:27Z
dc.date.issued2000-04-01
dc.identifier.doi10.1136/jmg.37.4.307
dc.identifier.issn0022-2593
dc.identifier.pubmed10819640
dc.identifier.urihttps://hdl.handle.net/11424/223096
dc.identifier.wosWOS:000086453000014
dc.language.isoeng
dc.publisherBRITISH MED JOURNAL PUBL GROUP
dc.relation.ispartofJOURNAL OF MEDICAL GENETICS
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectREGULATOR CFTR GENE
dc.subjectMESSENGER-RNA
dc.subjectIDENTIFICATION
dc.subjectFAMILIES
dc.subjectALLELES
dc.titleGenotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AA -> G shows a severe phenotype
dc.typeother
dc.type.subletter
dspace.entity.typePublication
oaire.citation.endPage309
oaire.citation.issue4
oaire.citation.startPage307
oaire.citation.titleJOURNAL OF MEDICAL GENETICS
oaire.citation.volume37

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