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Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

Authors :
Danhauser, K.
Herebian, D.
Haack, T.B.
Rodenburg, R.J.
Strom, T.M.
Meitinger, T.
Klee, D.
Mayatepek, E.
Prokisch, H.
Distelmaier, F.
Danhauser, K.
Herebian, D.
Haack, T.B.
Rodenburg, R.J.
Strom, T.M.
Meitinger, T.
Klee, D.
Mayatepek, E.
Prokisch, H.
Distelmaier, F.
Source :
European Journal of Human Genetics; 450; 454; 1018-4813; 3; 24; ~European Journal of Human Genetics~450~454~~~1018-4813~3~24~~
Publication Year :
2016

Abstract

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Details

Database :
OAIster
Journal :
European Journal of Human Genetics; 450; 454; 1018-4813; 3; 24; ~European Journal of Human Genetics~450~454~~~1018-4813~3~24~~
Publication Type :
Electronic Resource
Accession number :
edsoai.on1285259449
Document Type :
Electronic Resource