Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Chris H Emfinger"'
Autor:
Marie F. Smeland, Conor McClenaghan, Helen I. Roessler, Sanne Savelberg, Geir Åsmund Myge Hansen, Helene Hjellnes, Kjell Arne Arntzen, Kai Ivar Müller, Andreas Rosenberger Dybesland, Theresa Harter, Monica Sala-Rabanal, Chris H. Emfinger, Yan Huang, Soma S. Singareddy, Jamie Gunn, David F. Wozniak, Attila Kovacs, Maarten Massink, Federico Tessadori, Sarah M. Kamel, Jeroen Bakkers, Maria S. Remedi, Marijke Van Ghelue, Colin G. Nichols, Gijs van Haaften
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
ABCC9 encodes the SUR2 subunit of KATP channels and dominant genetic variants in ABCC9 have been associated with cardiac phenotypes. Here, the authors report recessive ABCC9 mutations in individuals with mild intellectual disability, myopathy and car
Externí odkaz:
https://doaj.org/article/3b16521767fb4e02b8c29af4d1962611
Autor:
Kjell Arne Arntzen, Kai Ivar Müller, Geir Åsmund Myge Hansen, Sanne M C Savelberg, Attila Kovacs, Marie Falkenberg Smeland, Marijke Van Ghelue, Yan Huang, Conor McClenaghan, David F. Wozniak, Monica Sala-Rabanal, Helen I. Roessler, Soma S. Singareddy, Colin G. Nichols, Theresa M. Harter, Jamie Gunn, Sarah M. Kamel, Federico Tessadori, Maarten P.G. Massink, Chris H Emfinger, Andreas Rosenberger Dybesland, Jeroen Bakkers, Maria S. Remedi, Gijs van Haaften, Helene Hjellnes
Publikováno v:
Nature Communications
Nature Communications, 10(1). Nature Publishing Group
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
Nature Communications, 10(1). Nature Publishing Group
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
Mutations in genes encoding KATP channel subunits have been reported for pancreatic disorders and Cantú syndrome. Here, we report a syndrome in six patients from two families with a consistent phenotype of mild intellectual disability, similar facie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4e4fe3baadb96dcb633c89844554553
https://hdl.handle.net/10037/17637
https://hdl.handle.net/10037/17637
