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Contribution of novel ATGL missense mutations to the clinic..:
Tavian, Daniela
;
Missaglia, Sara
;
Redaelli, Chiara
...
Human Molecular Genetics. 21 (2012) 24 - p. 5318-5328 , 2012
Link:
https://doi.org/10.1093/hmg/dds388
RT Journal T1
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_dds388&Exemplar=1&LAN=DE A1 Tavian, Daniela A1 Missaglia, Sara A1 Redaelli, Chiara A1 Pennisi, Elena M. A1 Invernici, Gloria A1 Wessalowski, Ruediger A1 Maiwald, Robert A1 Arca, Marcello A1 Coleman, Rosalind A. PB Oxford University Press (OUP) YR 2012 SN 1460-2083 SN 0964-6906 JF Human Molecular Genetics VO 21 IS 24 SP 5318 OP 5328 LK http://dx.doi.org/https://doi.org/10.1093/hmg/dds388 DO https://doi.org/10.1093/hmg/dds388 SF ELIB - SuUB Bremen
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