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Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity

dc.contributor.authorOzdemir, C
dc.contributor.authorPoda, M
dc.contributor.authorGeorgiou, DM
dc.contributor.authorIoannou, P
dc.contributor.authorTsingis, M
dc.contributor.authorMiddleton, LT
dc.contributor.authorZamba, E
dc.contributor.authorChristodoulou, K
dc.contributor.authorDeymeer, F
dc.contributor.authorSerdaroglu, P
dc.date.accessioned2021-03-05T19:07:58Z
dc.date.available2021-03-05T19:07:58Z
dc.date.issued2001
dc.identifier.citationChristodoulou K., Deymeer F., Serdaroglu P., Ozdemir C., Poda M., Georgiou D., Ioannou P., Tsingis M., Zamba E., Middleton L., "Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity", NEUROGENETICS, cilt.3, ss.127-132, 2001
dc.identifier.issn1364-6745
dc.identifier.othervv_1032021
dc.identifier.otherav_cdce0a8d-e063-4985-8a8d-8307cd93fa86
dc.identifier.urihttp://hdl.handle.net/20.500.12627/136175
dc.identifier.urihttps://doi.org/10.1007/s100480100112
dc.description.abstractFriedreich's ataxia (FRDA), the most-common form of autosomal recessive ataxia, is inherited in most cases by a large expansion of a GAA triplet repeat in the first intron of the frataxin (X25) gene. Genetic heterogeneity in FRDA has been previously reported in typical FRDA families that do not link to the FRDA locus on chromosome 9q13. We report localization of a second FRDA locus (FRDA2) to chromosome 9p23-9p11, and we provide evidence for further genetic heterogeneity of the disease, in a family with the classic FRDA phenotype.
dc.language.isoeng
dc.subjectDahili Tıp Bilimleri
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectKLİNİK NEUROLOJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectNöroloji
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.titleMapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity
dc.typeMakale
dc.relation.journalNEUROGENETICS
dc.contributor.department, ,
dc.identifier.volume3
dc.identifier.issue3
dc.identifier.startpage127
dc.identifier.endpage132
dc.contributor.firstauthorID162475


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