(Q24539207)

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

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Europe PubMed Central

PubMed publication ID

6 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

alpha-mannosidosis

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author name string

Gotoda Y

1

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Europe PubMed Central

PubMed publication ID

6 July 2017

Wakamatsu N

2

1 reference

Europe PubMed Central

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6 July 2017

Kawai H

3

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

Nishida Y

4

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6 July 2017

Matsumoto T

5

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6 July 2017

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publication date

1 October 1998

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6 July 2017

American Journal of Human Genetics

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6 July 2017

63

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6 July 2017

4

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Europe PubMed Central

PubMed publication ID

6 July 2017

1015-1024

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Europe PubMed Central

PubMed publication ID

6 July 2017

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302048

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302048

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1086%2F302048

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1086%2F302048

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1086%2F302048

7 January 2021

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

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1086%2F302048

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1086%2F302048

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1086%2F302048

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1086%2F302048

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1086%2F302048

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302048

7 January 2021

based on heuristic

inferred from DOI database lookup

Mannosidosis: two brothers with different degrees of disease severity

1 reference

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based on heuristic

inferred from DOI database lookup

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

1 reference

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inferred from DOI database lookup

Expression of Bacterial β-Galactosidase in Animal Cells

1 reference

https://api.crossref.org/works/10.1086%2F302048

7 January 2021

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inferred from DOI database lookup

The Radiographic Features of Mannosidosis

1 reference

https://api.crossref.org/works/10.1086%2F302048

7 January 2021

based on heuristic

inferred from DOI database lookup

Mannosidosis: clinical, morphologic, immunologic, and biochemical studies

1 reference

https://api.crossref.org/works/10.1086%2F302048

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

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Europe PubMed Central

PubMed publication ID

6 July 2017

PMC publication ID

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Europe PubMed Central

PubMed publication ID

6 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

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