Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.

Por Hoshide, R, Matsuura, T, Haraguchi, Y, Endo, F, Yoshinaga, M, Matsuda, I
Publicado em 1993

Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomati...

Por Matsuda, I, Matsuura, T, Nishiyori, A, Komaki, S, Hoshide, R, Matsumoto, T, Funakoshi, M, Kiwaki, K, Endo, F, Hata, A, Shimadzu, M, Yoshino, M
Publicado em 1996