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Article

Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.

Journal of inherited metabolic disease - 1 Jan 2005

Cavicchi C, Donati M A, Pasquini E, Poggi G M, Dionisi-Vici C, Parini R, Zammarchi E, Morrone A

Abstract excerpt

We report seven novel mutations, including three amino acids substitutions (p.Glu286Lys, p.Cys560Tyr, p.Pro615Leu), two nonsense mutations (p.Arg31X, p.Glu 451X), one splicing defect (c.2125-1G >A), one small deletion (c.1758-1759delA) and nine previously described mutations identified in 10 unrelated Italian patients affected by mut MMA.

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PMID: 16435223
DOI: 10.1007/s10545-005-0191-x

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