Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

Authors :: Gardeitchik, T.
Mohamed, M.
Ruzzenente, B.
Karall, D.
Guerrero Castillo, S.
Dalloyaux, D.
Brand, M.A. van den
Kraaij, S.A.W. van
Hoischen, A.
Rodenburg, R.J.T.
Brandt, U.
Brouwer, A.P.M. de
Nijtmans, L.G.J.
Wevers, R.A.
Metodiev, M.D.
Morava, E.
Gardeitchik, T.
Mohamed, M.
Ruzzenente, B.
Karall, D.
Guerrero Castillo, S.
Dalloyaux, D.
Brand, M.A. van den
Kraaij, S.A.W. van
Hoischen, A.
Rodenburg, R.J.T.
Brandt, U.
Brouwer, A.P.M. de
Nijtmans, L.G.J.
Wevers, R.A.
Metodiev, M.D.
Morava, E.
Source :: American Journal of Human Genetics; 685; 695; 0002-9297; 4; 102; ~American Journal of Human Genetics~685~695~~~0002-9297~4~102~~
Publication Year :: 2018
Abstract: Contains fulltext : 190921.pdf (publisher's version ) (Closed access)

Database :: OAIster
Journal :: American Journal of Human Genetics; 685; 695; 0002-9297; 4; 102; ~American Journal of Human Genetics~685~695~~~0002-9297~4~102~~
Publication Type :: Electronic Resource
Accession number :: edsoai.on1377105494
Document Type :: Electronic Resource

Tools