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

Mineri, R (author)
Rimoldi, M (author)
Burlina, AB (author)
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Koskull, S (author)
Perletti, C (author)
Heese, B (author)
von Dobeln, U (author)
Karolinska Institutet
Mereghetti, P (author)
Di Meo, I (author)
Invernizzi, F (author)
Zeviani, M (author)
Uziel, G (author)
Tiranti, V (author)
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 (creator_code:org_t)
2008-05-07
2008
English.
In: Journal of medical genetics. - : BMJ. - 1468-6244. ; 45:7, s. 473-478
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