(Q79791179)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307006%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307006%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307006%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307006%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Gert Matthijs

0 references

Els Schollen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307006%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Liesbeth Keldermans

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307006%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Paz Briones

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307006%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Amparo Chabas

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307006%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Félix Sánchez-Valverde

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307006%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Maciej Adamowicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307006%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Ron Wevers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307006%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

publication date

16 February 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307006%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

25 December 2019

published in

1 reference

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25 December 2019

volume

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25 December 2019

issue

1 reference

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25 December 2019

page(s)

408-413

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307006%20AND%20SRC:MED&resulttype=core&format=json

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

25 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

Genetic defects in the human glycome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

Underdiagnosis of mild congenital disorders of glycosylation type Ia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

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%2FJ.YMGME.2007.01.003

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

PMM2 intronic branch-site mutations in CDG-Ia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

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%2FJ.YMGME.2007.01.003

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

Deep intronic mutations are rarely a cause of hemophilia B.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

A new insight into PMM2 mutations in the French population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.01.003

10.1016/J.YMGME.2007.01.003

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307006%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307006%20AND%20SRC:MED&resulttype=core&format=json