Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. (Q34283724)

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6 February 2020

title

Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations (English)

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6 February 2020

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methylmalonic acidemia

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2

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Didem Aliefendioğlu

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6 February 2020

author name string

Halil Dündar

1

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6 February 2020

Ayşegül Güzel-Ozantürk

3

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6 February 2020

Ali Dursun

4

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6 February 2020

Serap Sivri

5

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Turgay Coşkun

7

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Ayşegül Tokatli

8

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publication date

1 June 2012

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Molecular Genetics and Metabolism

6 February 2020

published in

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volume

106

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issue

4

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page(s)

419-423

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The Natural History of the Inherited Methylmalonic Acidemias

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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.

7 January 2021

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Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria

7 January 2021

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7 January 2021

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Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase

7 January 2021

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Long-term follow-up of 77 patients with isolated methylmalonic acidaemia

7 January 2021

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

7 January 2021

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Subunit interactions in Propionibacterium shermanii methylmalonyl-CoA mutase studied by analytical ultracentrifugation

7 January 2021

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Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction

7 January 2021

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Structures of the Human GTPase MMAA and Vitamin B 12 -dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation

7 January 2021

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Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease

7 January 2021

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High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays

7 January 2021

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Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform

7 January 2021

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How a protein binds B12: A 3.0 A X-ray structure of B12-binding domains of methionine synthase

7 January 2021

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mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation

7 January 2021

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Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations

7 January 2021

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How coenzyme B12 radicals are generated: the crystal structure of methylmalonyl-coenzyme A mutase at 2 A resolution

7 January 2021

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