TY  - GEN
AU  - Funghini,S
AU  - Pasquini,E
AU  - Cappellini,M
AU  - Donati,M A
AU  - Morrone,A
AU  - Fonda,C
AU  - Zammarchi,E
TI  - 3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene
SN  - 1096-7192
PY  - 2001///1004
KW  - Brain
KW  - pathology
KW  - Cells, Cultured
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - DNA, Complementary
KW  - metabolism
KW  - Female
KW  - Fibroblasts
KW  - Humans
KW  - Italy
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Meglutol
KW  - urine
KW  - Mothers
KW  - Oxo-Acid-Lyases
KW  - genetics
KW  - Pedigree
KW  - Polymerase Chain Reaction
KW  - RNA
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1006/mgme.2001.3191
ER  -