TY  - GEN
AU  - Oppliger,T
AU  - Thöny,B
AU  - Kluge,C
AU  - Matasovic,A
AU  - Heizmann,C W
AU  - Ponzone,A
AU  - Spada,M
AU  - Blau,N
TI  - Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families
SN  - 1059-7794
PY  - 1997///0826
KW  - Alcohol Oxidoreductases
KW  - blood
KW  - Alleles
KW  - Amino Acid Metabolism, Inborn Errors
KW  - enzymology
KW  - Blotting, Western
KW  - Cells, Cultured
KW  - DNA, Complementary
KW  - genetics
KW  - Enzyme Stability
KW  - Female
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Italy
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Phenylalanine
KW  - Phosphorus-Oxygen Lyases
KW  - Pterins
KW  - cerebrospinal fluid
KW  - Recombinant Proteins
KW  - metabolism
KW  - Sequence Analysis, DNA
KW  - Transfection
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/(SICI)1098-1004(1997)10:1<25::AID-HUMU4>3.0.CO;2-L
ER  -