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Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia

Deficiency or diminished activity of a cobalamin dependent enzyme methylmalonyl-CoA mutase causes inborn error of metabolism called methylmalonic acidemia (MMA). In this study we elucidated the spectrum of mutations in 21 Indian mut MMA patients by direct sequencing. Sequence analysis identified a t...

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Detalhes bibliográficos
Publicado no:Indian J Clin Biochem
Main Authors: Kumari, Chandrawati, Kapoor, Seema, Varughese, Bijo, Pollipali, Sunil Kumar, Ramji, Siddarth
Formato: Artigo
Idioma:Inglês
Publicado em: Springer India 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5538998/
https://ncbi.nlm.nih.gov/pubmed/28811685
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12291-016-0600-y
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