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

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...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of inherited metabolic disease 2005-12, Vol.28 (6), p.1175-1178
Hauptverfasser:	Cavicchi, C., Donati, M. A., Pasquini, E., Poggi, G. M., Dionisi‐Vici, C., Parini, R., Zammarchi, E., Morrone, A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alleles Biological and medical sciences Child Child, Preschool Codon DNA Mutational Analysis - methods DNA, Complementary - metabolism Female Heterozygote Homozygote Humans Infant Italy Lysine - chemistry Medical genetics Medical sciences Metabolic diseases Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - genetics Methylmalonyl-CoA Mutase - deficiency Methylmalonyl-CoA Mutase - genetics Mutation Prenatal Diagnosis - methods
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	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.
ISSN:	0141-8955 1573-2665
DOI:	10.1007/s10545-005-0191-x