(Q24681036)

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Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

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Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients (English)

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1 reference

N Seta

10

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author name string

S Vuillaumier-Barrot

series ordinal

1

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G Hetet

series ordinal

2

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A Barnier

series ordinal

3

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T Dupré

series ordinal

4

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M Cuer

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5

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P de Lonlay

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6

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V Cormier-Daire

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7

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G Durand

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8

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B Grandchamp

series ordinal

9

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language of work or name

English

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publication date

August 2000

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published in

Journal of Medical Genetics

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volume

37

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issue

8

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page(s)

579-80

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cites work

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734666

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734666

retrieved

7 April 2017

Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734666

retrieved

7 April 2017

Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734666

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734666

retrieved

7 April 2017

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/10922383

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/10922383

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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ResearchGate publication ID

12398350

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(Q24681036)

Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

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