TY  - GEN
AU  - Feldmann,D
AU  - Rozet,J M
AU  - Pelet,A
AU  - Hentzen,D
AU  - Briand,P
AU  - Hubert,P
AU  - Largilliere,C
AU  - Rabier,D
AU  - Farriaux,J P
AU  - Munnich,A
TI  - Site specific screening for point mutations in ornithine transcarbamylase deficiency
SN  - 0022-2593
PY  - 1992///0828
KW  - Amino Acid Metabolism, Inborn Errors
KW  - enzymology
KW  - Ammonia
KW  - blood
KW  - Base Sequence
KW  - Binding Sites
KW  - genetics
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Neonatal Screening
KW  - methods
KW  - Oligodeoxyribonucleotides
KW  - Ornithine Carbamoyltransferase
KW  - Ornithine Carbamoyltransferase Deficiency Disease
KW  - Pedigree
KW  - Polymorphism, Restriction Fragment Length
KW  - X Chromosome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
ER  -