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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1175-1178
Number of pages4
JournalJournal of Inherited Metabolic Disease
Volume28
Issue number6
DOIs
Publication statusPublished - Dec 2005

ASJC Scopus subject areas

  • Endocrinology
  • Genetics
  • Genetics(clinical)

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