Associated Papers
Identification of a biallelic MMUT variant (p.Thr230Arg) and its global perspective on clinical management.
Mansoor S et al.
Molecular Biology Reports, 2024
Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient.
Dai S et al.
Genetics Research, 2022
Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.
Keyfi F et al.
Molecular Biology Reports, 2019
Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants.
Ghoraba DA et al.
Meta Gene, 2015
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
Worgan LC et al.
Human Mutation, 2006
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
Martínez MA et al.
Molecular Genetics and Metabolism, 2005
[Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP].
Toyo-Oka Y et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 1995
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