(Q77936339)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10386614%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

title

Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10386614%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

author name string

M Pirard

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10386614%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

G Matthijs

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10386614%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

L Heykants

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10386614%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

E Schollen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10386614%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

S Grünewald

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10386614%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

J Jaeken

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10386614%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

E van Schaftingen

7

1 reference

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9 December 2019

publication date

1 June 1999

1 reference

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9 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10386614%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

volume

452

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10386614%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

issue

3

1 reference

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9 December 2019

page(s)

319-322

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10386614%20AND%20SRC:MED&resulttype=core&format=json

Carbohydrate deficient glycoprotein (CDG) syndrome type I

9 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900673-0

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900673-0

Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900673-0

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900673-0

Evidence for Genetic Heterogeneity in the Carbohydrate-Deficient Glycoprotein Syndrome Type I (CDG1)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900673-0

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900673-0

Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900673-0

Amino acid conservation in animal glucokinases. Identification of residues implicated in the interaction with the regulatory protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900673-0

Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900673-0

DNA sequencing with chain-terminating inhibitors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900673-0

Use of bacteriophage T7 RNA polymerase to direct selective high-level expression of cloned genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900673-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900673-0

A new class of phosphotransferases phosphorylated on an aspartate residue in an amino-terminal DXDX(T/V) motif

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900673-0

Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900673-0

Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2899%2900673-0

10.1016/S0014-5793(99)00673-0

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10386614%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference