(Q28142744)

8

0 references

Hudson H. Freeze

1 reference

ORCID Public Data File 2021

author name string

G Matthijs

1

0 references

E Schollen

2

0 references

C Bjursell

3

0 references

A Erlandson

4

0 references

H Freeze

5

0 references

F Imtiaz

6

0 references

S Kjaergaard

7

0 references

M Schwartz

9

0 references

S Vuillaumier-Barrot

11

0 references

V Westphal

12

0 references

B Winchester

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

13

0 references

language of work or name

English

0 references

publication date

November 2000

0 references

published in

Human Mutation

0 references

volume

16

0 references

issue

5

0 references

page(s)

386-94

0 references

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

4912899

4912899

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference