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

Ramanath MajumdarAndrew YoriPeggy W RushKimiyo RaymondDimitar GavrilovSilvia TortorelliDietrich MaternPiero RinaldoGerald L FeldmanDevin Oglesbee

Published in: Molecular genetics & genomic medicine (2017)

We observed additional FTCD alleles leading to urinary FIGLU elevations, and thus, providing molecular evidence of FTCD deficiency in cases identified by newborn screening or clinical biochemical genetic laboratory testing.

Keyphrases

copy number
genome wide
dna methylation
single molecule
gene expression
genome wide identification
transcription factor
smoking cessation
genome wide analysis