TY  - GEN
AU  - Funghini,S
AU  - Donati,M A
AU  - Pasquini,E
AU  - Zammarchi,E
AU  - Morrone,A
TI  - Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions
SN  - 1098-1004
PY  - 2004///0412
KW  - Amino Acid Substitution
KW  - Animals
KW  - Base Sequence
KW  - Carbamoyl-Phosphate Synthase (Ammonia)
KW  - genetics
KW  - Carbamoyl-Phosphate Synthase I Deficiency Disease
KW  - Exons
KW  - Female
KW  - Humans
KW  - Infant
KW  - Introns
KW  - Molecular Sequence Data
KW  - Point Mutation
KW  - Polymorphism, Genetic
KW  - RNA Splice Sites
KW  - Rats
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.9184
ER  -