Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia) (Q28142744)

8

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Hudson H. Freeze

1 reference

ORCID Public Data File 2021

author name string

G Matthijs

1

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E Schollen

2

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C Bjursell

3

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A Erlandson

4

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H Freeze

5

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F Imtiaz

6

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S Kjaergaard

7

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M Schwartz

9

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S Vuillaumier-Barrot

11

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V Westphal

12

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B Winchester

The catalytic domain of the P-type ATPase has the haloacid dehalogenase fold

13

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language of work or name

English

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publication date

November 2000

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published in

Human Mutation

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volume

16

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issue

5

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page(s)

386-94

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cites work

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

Prenatal diagnosis and the subsequent mutation analysis in a family with carbohydrate-deficient glycoprotein type I syndrome: growing evidence to support founder effects within CDG1 populations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

Carbohydrate deficient glycoprotein (CDG) syndrome type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C386%3A%3AAID-HUMU2%3E3.0.CO%3B2-Y

10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y

21 January 2018

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

11058895

1 reference

Consolidated OpenCitations Corpus – April 2017