Legius, E

Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion. [electronic resource] - Clinical genetics Aug 1990 - 155-9 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0009-9163

10.1111/j.1399-0004.1990.tb03565.x doi


Amino Acid Metabolism, Inborn Errors--genetics
Ammonia--blood
Child, Preschool
Chromosome Deletion
DNA Probes
Humans
Male
Mosaicism
Ornithine Carbamoyltransferase--genetics
Ornithine Carbamoyltransferase Deficiency Disease
Restriction Mapping