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1 Ergebnisse
1
A tyrosine kinase-activating variant Asn666Ser in PDGFRB ca..:
Bredrup, Cecilie
;
Stokowy, Tomasz
;
McGaughran, Julie
...
European Journal of Human Genetics. 27 (2018) 4 - p. 574-581 , 2018
Link:
https://doi.org/10.1038/s41431-018-0323-z
RT Journal T1
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41431-018-0323-z&Exemplar=1&LAN=DE A1 Bredrup, Cecilie A1 Stokowy, Tomasz A1 McGaughran, Julie A1 Lee, Samuel A1 Sapkota, Dipak A1 Cristea, Ileana A1 Xu, Linda A1 Tveit, Kåre Steinar A1 Høvding, Gunnar A1 Steen, Vidar Martin A1 Rødahl, Eyvind A1 Bruland, Ove A1 Houge, Gunnar PB Springer Science and Business Media LLC YR 2018 SN 1018-4813 SN 1476-5438 JF European Journal of Human Genetics VO 27 IS 4 SP 574 OP 581 LK http://dx.doi.org/https://doi.org/10.1038/s41431-018-0323-z DO https://doi.org/10.1038/s41431-018-0323-z SF ELIB - SuUB Bremen
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