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.
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency / Cavicchi C; Donati MA; Pasquini E; Poggi GM; Dionisi-Vici C; Parini R; Zammarchi E; Morrone A.. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 0141-8955. - STAMPA. - 28 (6):(2005), pp. 1175-1178. [10.1007/s10545-005-0191-x]
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.
POGGI, GIOVANNI MARIA;ZAMMARCHI, ENRICO;MORRONE, AMELIA
2005
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.
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