TY - JOUR
T1 - Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency
AU - Cavicchi, C.
AU - Donati, M. A.
AU - Pasquini, E.
AU - Poggi, G. M.
AU - Dionisi-Vici, C.
AU - Parini, R.
AU - Zammarchi, E.
AU - Morrone, A.
PY - 2005/12
Y1 - 2005/12
N2 - 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.
AB - 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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U2 - 10.1007/s10545-005-0191-x
DO - 10.1007/s10545-005-0191-x
M3 - Article
C2 - 16435223
AN - SCOPUS:31644445581
VL - 28
SP - 1175
EP - 1178
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 6
ER -