Functional analysis of a novel splicing mutation in the mutase gene of two unrelated pedigrees
Cell Journal [Yakhteh]. 2016; 18 (3): 397-404
Dans Anglais
| IMEMR
| ID: emr-183775
ABSTRACT
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 functionalanalysis:
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Indice:
Méditerranée orientale
langue:
Anglais
Texte intégral:
Cell J. [Yakhteh]
Année:
2016
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