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1 Ergebnisse
1
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers..:
Van Damme, Tim
;
Pang, Xiaomeng
;
Guillemyn, Brecht
...
Human Molecular Genetics. 27 (2018) 20 - p. 3475-3487 , 2018
Link:
https://doi.org/10.1093/hmg/ddy234
RT Journal T1
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers–Danlos syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddy234&Exemplar=1&LAN=DE A1 Van Damme, Tim A1 Pang, Xiaomeng A1 Guillemyn, Brecht A1 Gulberti, Sandrine A1 Syx, Delfien A1 De Rycke, Riet A1 Kaye, Olivier A1 de Die-Smulders, Christine E M A1 Pfundt, Rolph A1 Kariminejad, Ariana A1 Nampoothiri, Sheela A1 Pierquin, Geneviève A1 Bulk, Saskia A1 Larson, Austin A A1 Chatfield, Kathryn C A1 Simon, Marleen A1 Legrand, Anne A1 Gerard, Marion A1 Symoens, Sofie A1 Fournel-Gigleux, Sylvie A1 Malfait, Fransiska PB Oxford University Press (OUP) YR 2018 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 27 IS 20 SP 3475 OP 3487 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddy234 DO https://doi.org/10.1093/hmg/ddy234 SF ELIB - SuUB Bremen
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