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1 Ergebnisse
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Gain-of-function mutations in the phosphatidylserine syntha..:
Sousa, Sérgio B
;
Jenkins, Dagan
;
Chanudet, Estelle
...
Nature Genetics. 46 (2013) 1 - p. 70-76 , 2013
Link:
https://doi.org/10.1038/ng.2829
RT Journal T1
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_ng.2829&Exemplar=1&LAN=DE A1 Sousa, Sérgio B A1 Jenkins, Dagan A1 Chanudet, Estelle A1 Tasseva, Guergana A1 Ishida, Miho A1 Anderson, Glenn A1 Docker, James A1 Ryten, Mina A1 Sa, Joaquim A1 Saraiva, Jorge M A1 Barnicoat, Angela A1 Scott, Richard A1 Calder, Alistair A1 Wattanasirichaigoon, Duangrurdee A1 Chrzanowska, Krystyna A1 Simandlová, Martina A1 Van Maldergem, Lionel A1 Stanier, Philip A1 Beales, Philip L A1 Vance, Jean E A1 Moore, Gudrun E PB Springer Science and Business Media LLC YR 2013 SN 1061-4036 SN 1546-1718 JF Nature Genetics VO 46 IS 1 SP 70 OP 76 LK http://dx.doi.org/https://doi.org/10.1038/ng.2829 DO https://doi.org/10.1038/ng.2829 SF ELIB - SuUB Bremen
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