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Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

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author: Célia Nogueira, Chiara Aiello, Esmeralda G. Martins, Luísa Diogo, Olivier Danhaive, Clara Barbot, Carlo Dionisi-Vici, Filippo Maria Santorelli, Isabella Moroni

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Publication date
December 27, 2007
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