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SLC10A7 mutations in human and mouse cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

dc.contributor.authorHuber, C.
dc.contributor.authorMunnich, A.
dc.contributor.authorChantepie, S.
dc.contributor.authorDubail, J.
dc.contributor.authorSeta, N.
dc.contributor.authorPapy-Garcia, D.
dc.contributor.authorDe La Dure-Molla, M.
dc.contributor.authorCormier-Daire, V.
dc.contributor.authorNur, B.
dc.contributor.authorTuysuz, B.
dc.contributor.authorBruneel, A.
dc.contributor.authorStegmann, A.
dc.contributor.authorBreugem, C.
dc.contributor.authorvan Gassen, K.
dc.contributor.authorvan Eerde, A.
dc.contributor.authorStolte-Dijkstra, I.
dc.contributor.authorAmiel, J.
dc.contributor.authorSteichen-Gersdorf, E.
dc.contributor.authorGordon, C.
dc.contributor.authorMihci, E.
dc.contributor.authorSonntag, S.
dc.date.accessioned2021-03-06T21:02:44Z
dc.date.available2021-03-06T21:02:44Z
dc.identifier.citationDubail J., Huber C., Chantepie S., Sonntag S., Tuysuz B., Mihci E., Gordon C., Steichen-Gersdorf E., Amiel J., Nur B., et al., "SLC10A7 mutations in human and mouse cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects", 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.750-751
dc.identifier.othervv_1032021
dc.identifier.otherav_fcf20ce9-ca37-4cb0-bcd8-2edc68855be1
dc.identifier.urihttp://hdl.handle.net/20.500.12627/165520
dc.language.isoeng
dc.subjectTıbbi Genetik
dc.subjectTıp
dc.subjectGENETİK VE HAYAT
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectBİYOKİMYA VE MOLEKÜLER BİYOLOJİ
dc.subjectTemel Bilimler
dc.subjectSitogenetik
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectSağlık Bilimleri
dc.titleSLC10A7 mutations in human and mouse cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
dc.typeBildiri
dc.contributor.departmentInstitut National de la Sante et de la Recherche Medicale (Inserm) , ,
dc.identifier.volume27
dc.contributor.firstauthorID156552


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