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1 Ergebnisse
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A novel p.(Glu111Val) missense mutation in GUCA1A associate..:
Marino, Valerio
;
Dal Cortivo, Giuditta
;
Oppici, Elisa
...
Human Molecular Genetics. , 2018
Link:
https://doi.org/10.1093/hmg/ddy311
RT Journal T1
A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddy311&Exemplar=1&LAN=DE A1 Marino, Valerio A1 Dal Cortivo, Giuditta A1 Oppici, Elisa A1 Maltese, Paolo Enrico A1 D'Esposito, Fabiana A1 Manara, Elena A1 Ziccardi, Lucia A1 Falsini, Benedetto A1 Magli, Adriano A1 Bertelli, Matteo A1 Dell'Orco, Daniele PB Oxford University Press (OUP) YR 2018 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddy311 DO https://doi.org/10.1093/hmg/ddy311 SF ELIB - SuUB Bremen
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