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1 Ergebnisse
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De novo p.G696S mutation in COL4A1 causes intracranial calc..:
Kinoshita, Keishiro
;
Ishizaki, Yoshito
;
Yamamoto, Hiroyuki
...
European Journal of Medical Genetics. 63 (2020) 4 - p. 103825 , 2020
Link:
https://doi.org/10.1016/j.ejmg.2019.103825
RT Journal T1
De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ejmg.2019.103825&Exemplar=1&LAN=DE A1 Kinoshita, Keishiro A1 Ishizaki, Yoshito A1 Yamamoto, Hiroyuki A1 Sonoda, Motoshi A1 Yonemoto, Kousuke A1 Kira, Ryutaro A1 Sanefuji, Masafumi A1 Ueda, Akihiko A1 Matsui, Hirotaka A1 Ando, Yukio A1 Sakai, Yasunari A1 Ohga, Shouichi PB Elsevier BV YR 2020 SN 1769-7212 JF European Journal of Medical Genetics VO 63 IS 4 SP 103825 LK http://dx.doi.org/https://doi.org/10.1016/j.ejmg.2019.103825 DO https://doi.org/10.1016/j.ejmg.2019.103825 SF ELIB - SuUB Bremen
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