Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

Authors :: Mineri, R.
Rimoldi, M.
Burlina, A.B.
Koskull, S.
Perletti, C.
Heese, B.
von Dobeln, U.
Mereghetti, P.
Di Meo, I.
Invernizzi, F.
Zeviani, M.
Uziel, G.
Tiranti, V.
Source :: Journal of Medical Genetics. July, 2008, Vol. 45 Issue 7, p473, 6 p.
Publication Year :: 2008

Subjects :: Encephalopathy -- Genetic aspects
Encephalopathy -- Development and progression
Encephalopathy -- Reports
Gene mutations -- Identification and classification
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