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Bi-allelic mutations ofLONP1encoding the mitochondrial LonP..:
Nimmo, Graeme A M
;
Venkatesh, Sundararajan
;
Pandey, Ashutosh K
...
Human Molecular Genetics. 28 (2018) 2 - p. 290-306 , 2018
Link:
https://doi.org/10.1093/hmg/ddy351
RT Journal T1
Bi-allelic mutations ofLONP1encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddy351&Exemplar=1&LAN=DE A1 Nimmo, Graeme A M A1 Venkatesh, Sundararajan A1 Pandey, Ashutosh K A1 Marshall, Christian R A1 Hazrati, Lili-Naz A1 Blaser, Susan A1 Ahmed, Sohnee A1 Cameron, Jessie A1 Singh, Kamalendra A1 Ray, Peter N A1 Suzuki, Carolyn K A1 Yoon, Grace PB Oxford University Press (OUP) YR 2018 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 28 IS 2 SP 290 OP 306 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddy351 DO https://doi.org/10.1093/hmg/ddy351 SF ELIB - SuUB Bremen
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