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Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome

dc.contributor.authorDOWLING, James J.
dc.contributor.authorBURMEISTER, Margit
dc.contributor.authorLI, Jun Z.
dc.contributor.authorPENG, Weiping
dc.contributor.authorYapici, Zühal
dc.contributor.authorXU, Jishu
dc.contributor.authorMAJCZENKO, Karen
dc.contributor.authorBURNS, Randi
dc.date.accessioned2021-03-03T07:46:17Z
dc.date.available2021-03-03T07:46:17Z
dc.date.issued2014
dc.identifier.citationBURNS R., MAJCZENKO K., XU J., PENG W., Yapici Z., DOWLING J. J. , LI J. Z. , BURMEISTER M., "Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome", NEUROLOGY, cilt.83, sa.23, ss.2175-2182, 2014
dc.identifier.issn0028-3878
dc.identifier.othervv_1032021
dc.identifier.otherav_13cb729d-8ddd-473e-8594-0104bb14349d
dc.identifier.urihttp://hdl.handle.net/20.500.12627/18725
dc.identifier.urihttps://doi.org/10.1212/wnl.0000000000001053
dc.description.abstractObjective: To elucidate the genetic cause of a rare recessive ataxia presented by 2 siblings from a consanguineous Turkish family with a nonprogressive, congenital ataxia with mental retardation of unknown etiology.
dc.language.isoeng
dc.subjectDahili Tıp Bilimleri
dc.subjectNöroloji
dc.subjectKLİNİK NEUROLOJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.titleHomozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome
dc.typeMakale
dc.relation.journalNEUROLOGY
dc.contributor.departmentUniversity of Michigan System , ,
dc.identifier.volume83
dc.identifier.issue23
dc.identifier.startpage2175
dc.identifier.endpage2182
dc.contributor.firstauthorID52824


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