Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria (Q34609569)

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English	Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria	scientific article

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3 August 2017

Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria (English)

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Europe PubMed Central

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3 August 2017

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Hava Peretz

1

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3 August 2017

Meirav Shtauber Naamati

2

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3 August 2017

David Levartovsky

3

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3 August 2017

Ayala Lagziel

4

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3 August 2017

Esther Shani

5

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3 August 2017

Ivona Horn

6

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3 August 2017

Hanna Shalev

7

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3 August 2017

Daniel Landau

8

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3 August 2017

publication date

23 March 2007

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3 August 2017

Molecular Genetics and Metabolism

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3 August 2017

91

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3 August 2017

1

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3 August 2017

23-29

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3 August 2017

Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.005

7 January 2021

Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II

1 reference

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7 January 2021

XDH gene mutation is the underlying cause of classical xanthinuria: a second report

1 reference

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7 January 2021

Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.005

7 January 2021

Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.005

7 January 2021

Molybdenum-containing hydroxylases

1 reference

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7 January 2021

Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II

1 reference

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7 January 2021

Comparison of the sequences of the Aspergillus nidulans hxB and Drosophila melanogaster ma-l genes with nifS from Azotobacter vinelandii suggests a mechanism for the insertion of the terminal sulphur atom in the molybdopterin cofactor

1 reference

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7 January 2021

Characterization of the NifS-like domain of ABA3 from Arabidopsis thaliana provides insight into the mechanism of molybdenum cofactor sulfuration

1 reference

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7 January 2021

Cell biology of molybdenum

1 reference

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7 January 2021

Two siblings with classical xanthinuria type 1: significance of allopurinol loading test

1 reference

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Canine cyclic hematopoiesis is associated with abnormal purine and pyrimidine metabolism

1 reference

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Cloning of the cDNA encoding human xanthine dehydrogenase (oxidase): structural analysis of the protein and chromosomal location of the gene

1 reference

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7 January 2021

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

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7 January 2021

ConSeq: the identification of functionally and structurally important residues in protein sequences

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.005

7 January 2021

The absence of molybdenum cofactor sulfuration is the primary cause of the flacca phenotype in tomato plants

1 reference

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7 January 2021

Identification of the missing component in the mitochondrial benzamidoxime prodrug-converting system as a novel molybdenum enzyme

1 reference

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7 January 2021

Genetic and chemical analyses of the action mechanisms of sirtinol in Arabidopsis

1 reference

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7 January 2021

Drug-metabolizing ability of molybdenum hydroxylases

1 reference

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7 January 2021

Cellular distribution, metabolism and regulation of the xanthine oxidoreductase enzyme system

1 reference

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7 January 2021

Physiological roles of xanthine oxidoreductase

1 reference

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7 January 2021

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10.1016/J.YMGME.2007.02.005

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Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

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Europe PubMed Central

PubMed publication ID

3 August 2017

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