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1 Ergebnisse
1
Four Novel p.N385K, p.V36A, c.1033–1034insT and c.1417–1418..:
Masoumeh Dehghan Manshadi
;
Behnam Kamalidehghan
;
Fatemeh Keshavarzi
...
http://www.mdpi.com/1422-0067/16/4/6668. , 2015
Link:
https://doi.org/10.3390/ijms16046668
RT Journal T1
Four Novel p.N385K, p.V36A, c.1033–1034insT and c.1417–1418delCT Mutations in the Sphingomyelin Phosphodiesterase 1 (SMPD1) Gene in Patients with Types A and B Niemann-Pick Disease (NPD)
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:055f2e6518b3495394e118d057421ae4&Exemplar=1&LAN=DE A1 Masoumeh Dehghan Manshadi A1 Behnam Kamalidehghan A1 Fatemeh Keshavarzi A1 Omid Aryani A1 Sepideh Dadgar A1 Ahoora Arastehkani A1 Mahdi Tondar A1 Fatemeh Ahmadipour A1 Goh Yong Meng A1 Massoud Houshmand PB MDPI AG YR 2015 K1 types A and B niemann-pick disease (NPD) K1 sphingomyelin phosphodiesterase 1 (SMPD1) gene K1 acid sphingomyelinase (ASM) K1 p.G508R K1 p.N385K and p.V36A K1 c.1033–1034insT and c.1417–1418delCT K1 Biology (General) K1 QH301-705.5 K1 Chemistry K1 QD1-999 JF http://www.mdpi.com/1422-0067/16/4/6668 LK http://dx.doi.org/https://doi.org/10.3390/ijms16046668 DO https://doi.org/10.3390/ijms16046668 SF ELIB - SuUB Bremen
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