Novel c.2216T > C (p.I739T) Mutation in Exon 13 and c.1481T > A (p.L494X) Mutation in Exon 8 of MUT Gene in a Female with Methylmalonic Acidemia

We report herein a 1.5-year-old girl with methylmalonic acidemia (MMA) in whom two missense mutations were found: a novel I739T mutation located in exon 13 and the L494X mutation in exon 8. The results of organic acid test showed a pronounced increase in methylmalonate excretion with increased methy...

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Detalles Bibliográficos
Autores principales: Imataka, George, Sakamoto, Osamu, Yamanouchi, Hideo, Yoshihara, Shigemi, Omura-Hasegawa, Yuki, Tajima, Go, Arisaka, Osamu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2013
Materias:
Translational Biomedical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756855/
https://www.ncbi.nlm.nih.gov/pubmed/23479330
http://dx.doi.org/10.1007/s12013-013-9532-9

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