Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation

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...

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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Lee, Tomoko, Misaki, Maiko, Shimomura, Hideki, Tanaka, Yasuhiko, Yoshida, Satoru, Murayama, Kei, Nakamura, Kimitoshi, Fujiki, Ryoji, Ohara, Osamu, Sasai, Hideo, Fukao, Toshiyuki, Takeshima, Yasuhiro
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
Matèries:
Data Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6095930/
https://ncbi.nlm.nih.gov/pubmed/30131866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0022-x
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