TY  - GEN
AU  - Majumdar,Ramanath
AU  - Yori,Andrew
AU  - Rush,Peggy W
AU  - Raymond,Kimiyo
AU  - Gavrilov,Dimitar
AU  - Tortorelli,Silvia
AU  - Matern,Dietrich
AU  - Rinaldo,Piero
AU  - Feldman,Gerald L
AU  - Oglesbee,Devin
TI  - Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria
SN  - 2324-9269
PY  - 2018///0119
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Ammonia-Lyases
KW  - genetics
KW  - Codon, Nonsense
KW  - Frameshift Mutation
KW  - Gene Deletion
KW  - Genotype
KW  - Glutamate Formimidoyltransferase
KW  - deficiency
KW  - Humans
KW  - Metabolism, Inborn Errors
KW  - diagnosis
KW  - Mutation, Missense
KW  - Open Reading Frames
KW  - Polymorphism, Single Nucleotide
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1002/mgg3.333
ER  -