(Q28214820)

2

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I Callebaut

3

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N Guffon

4

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H Ogier de Baulny

5

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G Touati

6

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A Aydin

7

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D Porquet

8

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J Elion

European Journal of Human Genetics

9

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language of work or name

English

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publication date

August 2001

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published in

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volume

9

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issue

8

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page(s)

577-82

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cites work

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Mutations inmut methylmalonic acidemia: Clinical and enzymatic correlations

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

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Molecular and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiency.

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A common mutation among blacks with mut- methylmalonic aciduria

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

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

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

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

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Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells

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An immortalized xeroderma pigmentosum, group C, cell line which replicates SV40 shuttle vectors

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Comparative protein modelling by satisfaction of spatial restraints

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