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Mutational spectrum in ten Italian patients affected by methylmalonyl‐CoA mutase deficiency
Author(s) -
Cavicchi C.,
Donati M. A.,
Pasquini E.,
Poggi G. M.,
DionisiVici C.,
Parini R.,
Zammarchi E.,
Morrone A.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-0191-x
Subject(s) - nonsense mutation , genetics , mutase , nonsense , rna splicing , mutation , human genetics , biology , microbiology and biotechnology , missense mutation , gene , rna
Summary 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.