(Q24539207)

6 July 2017

Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis (English)

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6 July 2017

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Gotoda Y

1

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6 July 2017

Wakamatsu N

2

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6 July 2017

Kawai H

3

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6 July 2017

Nishida Y

4

1 reference

6 July 2017

Matsumoto T

5

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6 July 2017

language of work or name

English

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publication date

1 October 1998

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American Journal of Human Genetics

6 July 2017

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6 July 2017

63

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6 July 2017

4

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6 July 2017

1015-1024

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Long-term follow-up of biochemical and cognitive functioning in patients with mannosidosis

6 July 2017

1 reference

7 January 2021

Clinical and biochemical analysis of two families with type I and type II mannosidosis

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7 January 2021

Human lysosomal alpha-mannosidase: isolation and nucleotide sequence of the full-length cDNA.

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7 January 2021

Expression of human lysosomal alpha-mannosidase activity in transfected murine cells and human alpha-mannosidase deficient fibroblasts

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7 January 2021

Genomic structure of the human lysosomal alpha-mannosidase gene (MANB).

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7 January 2021

Skeletal muscle pathology of mannosidosis in two siblings with spastic paraplegia.

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7 January 2021

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

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7 January 2021

Biochemical transfer of single-copy eucaryotic genes using total cellular DNA as donor

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7 January 2021

Characterization of the human MANB gene encoding lysosomal alpha-D-mannosidase

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7 January 2021

Purification and comparison of the structures of human liver acidic alpha-D-mannosidases A and B.

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7 January 2021

Partial sequence of the purified protein confirms the identity of cDNA coding for human lysosomal alpha-mannosidase B.

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7 January 2021

Cloning, expression, purification, and characterization of the human broad specificity lysosomal acid alpha-mannosidase

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7 January 2021

alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.

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7 January 2021

An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide

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7 January 2021

Mannosidosis: two brothers with different degrees of disease severity

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7 January 2021

Mannosidosis: clinical, fine-structural and biochemical findings in three cases

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7 January 2021

Expression of Bacterial β-Galactosidase in Animal Cells

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7 January 2021

The Radiographic Features of Mannosidosis

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7 January 2021

Mannosidosis: clinical, morphologic, immunologic, and biochemical studies

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7 January 2021

Identifiers

DOI

10.1086/302048

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6 July 2017

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6 July 2017

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