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1 Ergebnisse
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A recessive homozygous p.Asp92Gly SDHD mutation causes pren..:
Alston, Charlotte L.
;
Ceccatelli Berti, Camilla
;
Blakely, Emma L.
...
Human Genetics. 134 (2015) 8 - p. 869-879 , 2015
Link:
https://doi.org/10.1007/s00439-015-1568-z
RT Journal T1
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency
UL https://suche.suub.uni-bremen.de/peid=cr-10.1007_s00439-015-1568-z&Exemplar=1&LAN=DE A1 Alston, Charlotte L. A1 Ceccatelli Berti, Camilla A1 Blakely, Emma L. A1 Oláhová, Monika A1 He, Langping A1 McMahon, Colin J. A1 Olpin, Simon E. A1 Hargreaves, Iain P. A1 Nolli, Cecilia A1 McFarland, Robert A1 Goffrini, Paola A1 O'Sullivan, Maureen J. A1 Taylor, Robert W. PB Springer Science and Business Media LLC YR 2015 SN 0340-6717 SN 1432-1203 JF Human Genetics VO 134 IS 8 SP 869 OP 879 LK http://dx.doi.org/https://doi.org/10.1007/s00439-015-1568-z DO https://doi.org/10.1007/s00439-015-1568-z SF ELIB - SuUB Bremen
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