TY  - GEN
AU  - Bisanzi,S
AU  - Morrone,A
AU  - Donati,M A
AU  - Pasquini,E
AU  - Spada,M
AU  - Strisciuglio,P
AU  - Parenti,G
AU  - Parini,R
AU  - Papadia,F
AU  - Zammarchi,E
TI  - Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene
SN  - 1096-7192
PY  - 2003///0130
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Amino Acid Substitution
KW  - Base Sequence
KW  - Child, Preschool
KW  - DNA
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Italy
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Ornithine Carbamoyltransferase
KW  - Ornithine Carbamoyltransferase Deficiency Disease
KW  - enzymology
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/s1096-7192(02)00028-8
ER  -