Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). (Q34624792)

3 August 2017

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title

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). (English)

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3 August 2017

Shunji Tomatsu

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3 August 2017

Adriana M Montaño

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3 August 2017

Vu Chi Dung

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3 August 2017

Jeffrey H Grubb

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3 August 2017

William S Sly

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3 August 2017

publication date

1 April 2009

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3 August 2017

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3 August 2017

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3 August 2017

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3 August 2017

page(s)

511-519

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Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

3 August 2017

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Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis

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Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII mice.

7 July 2018

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Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII.

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Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse

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Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region

7 July 2018

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beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients

7 July 2018

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Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII

7 July 2018

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Structure of human beta-glucuronidase reveals candidate lysosomal targeting and active-site motifs

7 July 2018

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Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.

7 July 2018

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Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes

7 July 2018

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A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII

7 July 2018

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Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.

7 July 2018

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Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes

7 July 2018

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A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene

7 July 2018

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Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII.

7 July 2018

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Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis

7 July 2018

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7 July 2018

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Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency

7 July 2018

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Cloning and characterization of the human beta-glucuronidase gene

7 July 2018

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Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in beta-glucuronidase with Val.

7 July 2018

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7 July 2018

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7 July 2018

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Molecular analysis of mucopolysaccharidosis type VII

7 July 2018

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7 July 2018

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Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity

7 July 2018

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7 July 2018

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Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells

7 July 2018

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Mucopolysaccharidosis type VII in a German Shepherd Dog.

21 January 2018

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Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13.

21 January 2018

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Methylation patterns of the human beta-glucuronidase gene locus: boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides

21 January 2018

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A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene

21 January 2018

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Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis.

26 October 2018

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12 December 2020

Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency

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12 December 2020

Four novel mutations in Mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the β-glucuronidase gene that creates a novel 5'-splice site

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12 December 2020

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote

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12 December 2020

Beta-glucuronidase P408S, P415L allele in a Mexican population: population screening in Guadalajara and prenatal diagnosis

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12 December 2020

Analytical method for the determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid chromatography/turbo ionspray ionization tandem mass spectrometry

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12 December 2020

Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family

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12 December 2020

Identifiers

DOI

10.1002/HUMU.20828

1 reference

3 August 2017

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3 August 2017

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