3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.

Funghini, S

3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. [electronic resource] - Molecular genetics and metabolism Jul 2001 - 268-75 p. digital

Publication Type: Case Reports; Journal Article

1096-7192

10.1006/mgme.2001.3191 doi


Brain--pathology
Cells, Cultured
Child, Preschool
Codon, Nonsense
DNA, Complementary--metabolism
Female
Fibroblasts--metabolism
Humans
Italy
Magnetic Resonance Imaging
Male
Meglutol--urine
Mothers
Oxo-Acid-Lyases--genetics
Pedigree
Polymerase Chain Reaction
RNA--metabolism