TY  - GEN
AU  - Mineri,R
AU  - Rimoldi,M
AU  - Burlina,A B
AU  - Koskull,S
AU  - Perletti,C
AU  - Heese,B
AU  - von Döbeln,U
AU  - Mereghetti,P
AU  - Di Meo,I
AU  - Invernizzi,F
AU  - Zeviani,M
AU  - Uziel,G
AU  - Tiranti,V
TI  - Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
SN  - 1468-6244
PY  - 2008///0918
KW  - Adolescent
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Brain Diseases, Metabolic, Inborn
KW  - genetics
KW  - Carnitine
KW  - analogs & derivatives
KW  - Child
KW  - Child, Preschool
KW  - Cohort Studies
KW  - DNA
KW  - chemistry
KW  - Female
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mitochondrial Proteins
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Nucleocytoplasmic Transport Proteins
KW  - Polymerase Chain Reaction
KW  - Polymorphism, Single Nucleotide
KW  - Sequence Alignment
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2008.058271
ER  -