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Mutation spectrum and haplotype study of mucopolysaccharidosis type IIIC patients reveal possible migration events and founder effects of HGSNAT mutations

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dc.contributor.authorELÇİOĞLU, HURİYE NURSEL
dc.contributor.authorsMartins, Carla; de Medeiros, Paula Frassinetti; Leistner-Segal, Sandra; Elcioglu, Nursel; Behnam, Mandiyeh; Lacerda, Lucia; Lefebvre, Jean-Francois; Giugliani, Roberto; Pshezhetsky, Alexey V.
dc.date.accessioned2022-03-12T16:23:43Z
dc.date.accessioned2026-01-11T15:09:29Z
dc.date.available2022-03-12T16:23:43Z
dc.date.issued2017
dc.identifier.doi10.1016/j.ymgme.2016.11.227
dc.identifier.eissn1096-7206
dc.identifier.issn1096-7192
dc.identifier.urihttps://hdl.handle.net/11424/226010
dc.identifier.wosWOS:000393734000220
dc.language.isoeng
dc.publisherACADEMIC PRESS INC ELSEVIER SCIENCE
dc.relation.ispartofMOLECULAR GENETICS AND METABOLISM
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.titleMutation spectrum and haplotype study of mucopolysaccharidosis type IIIC patients reveal possible migration events and founder effects of HGSNAT mutations
dc.typeconferenceObject
dspace.entity.typePublication
oaire.citation.endPageS92
oaire.citation.issue1-2
oaire.citation.startPageS92
oaire.citation.titleMOLECULAR GENETICS AND METABOLISM
oaire.citation.volume120

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