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Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees

OBJECTIVE: Methylmalonic acidura (MMA) is a rare autosomal recessive inborn error of metabolism. In this study we present a novel nucleotide change in the mutase (MUT) gene of two unrelated Iranian pedigrees and introduce the methods used for its functional analysis. MATERIALS AND METHODS: Two proba...

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Detalles Bibliográficos
Autores principales:	Ahmadloo, Somayeh, Talebi, Saeed, Miryounesi, Mohammad, Pasalar, Parvin, Keramatipour, Mohammad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Royan Institute 2016
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011328/ https://www.ncbi.nlm.nih.gov/pubmed/27602322

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