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...

Descripción completa

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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011328/
https://www.ncbi.nlm.nih.gov/pubmed/27602322

Ejemplares similares