Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
An 18-month-old boy was diagnosed with late-onset ornithine transcarbamylase deficiency. Genetic analysis revealed a mosaic frameshift mutation (p.Q279fs) in the
OTC
gene. Despite the presence of a null mutation, he exhibited a milder phenotype, suggesting that the wild-type allele could rescue the function of OTC. The presence of mosaicism h...
Alternative Titles
Full title
Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6095930
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6095930
Other Identifiers
ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-018-0022-x
