Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia (Q34577981)

3 August 2017

title

Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia (English)

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3 August 2017

Osamu Sakamoto

1

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3 August 2017

Toshihiro Ohura

2

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Yoichi Matsubara

3

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Masaki Takayanagi

4

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Shigeru Tsuchiya

5

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3 August 2017

publication date

31 October 2006

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Journal of Human Genetics

3 August 2017

published in

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volume

52

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issue

1

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page(s)

48-55

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Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.

3 August 2017

cites work

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12 December 2020

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants

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12 December 2020

Assay of methylmalonyl CoA mutase with high-performance liquid chromatography

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12 December 2020

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients

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12 December 2020

A common mutation among blacks with mut- methylmalonic aciduria

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12 December 2020

Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

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12 December 2020

Mutation analysis of the MCM gene in Korean patients with MMA.

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12 December 2020

Three novel and six common mutations in 11 patients with methylmalonic acidemia

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12 December 2020

Biochemical analysis of intact fibroblasts from two cases with methylmalonic acidaemia

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12 December 2020

A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis.

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12 December 2020

[Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP]

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12 December 2020

Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation

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12 December 2020

The International HapMap Project

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12 December 2020

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype

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12 December 2020

Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia

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12 December 2020

A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin

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12 December 2020

Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations

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12 December 2020

Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation

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12 December 2020

Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients

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12 December 2020

10.1007/S10038-006-0077-2

Identifiers

DOI

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3 August 2017

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