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Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports

dc.contributor.authorCil, Ergun
dc.contributor.authorToksoy, Guven
dc.contributor.authorYakicier, Cengiz
dc.contributor.authorTemel, Sehime G.
dc.contributor.authorKayserili, Hulya
dc.contributor.authorUyguner, Oya
dc.contributor.authorUYSAL, FAHRETTİN
dc.contributor.authorTurkgenc, Burcu
dc.contributor.authorBostan, Ozlem M.
dc.contributor.authorEvke, Elif
dc.date.accessioned2021-03-04T08:41:23Z
dc.date.available2021-03-04T08:41:23Z
dc.identifier.citationUYSAL F., Turkgenc B., Toksoy G., Bostan O. M. , Evke E., Uyguner O., Yakicier C., Kayserili H., Cil E., Temel S. G. , "Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports", BMC MEDICAL GENETICS, cilt.18, 2017
dc.identifier.issn1471-2350
dc.identifier.othervv_1032021
dc.identifier.otherav_647c9705-d9a0-4c9d-9ffd-1fffbbe4d3b9
dc.identifier.urihttp://hdl.handle.net/20.500.12627/69939
dc.identifier.urihttps://doi.org/10.1186/s12881-017-0474-8
dc.description.abstractBackground: Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be considered, particularly in malignant course patients.
dc.language.isoeng
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.titleHomozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports
dc.typeMakale
dc.relation.journalBMC MEDICAL GENETICS
dc.contributor.departmentİstanbul Üniversitesi , İstanbul Tıp Fakültesi , Dahili Bilimler
dc.identifier.volume18
dc.contributor.firstauthorID246551


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