Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.

Majumdar, Ramanath

Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria. [electronic resource] - Molecular genetics & genomic medicine 11 2017 - 795-799 p. digital

Publication Type: Journal Article

2324-9269

10.1002/mgg3.333 doi


Alleles
Amino Acid Sequence
Ammonia-Lyases--genetics
Codon, Nonsense
Frameshift Mutation
Gene Deletion
Genotype
Glutamate Formimidoyltransferase--deficiency
Humans
Metabolism, Inborn Errors--diagnosis
Mutation, Missense
Open Reading Frames--genetics
Polymorphism, Single Nucleotide