(Q42663851)

4 November 2017

D409H/D409H genotype in Gaucher-like disease (English)

1 reference

4 November 2017

Uyama E

1

1 reference

4 November 2017

Uchino M

2

1 reference

4 November 2017

Ida H

3

1 reference

4 November 2017

Eto Y

4

1 reference

4 November 2017

Owada M

5

1 reference

4 November 2017

language of work or name

English

0 references

publication date

1 February 1997

1 reference

Journal of Medical Genetics

4 November 2017

1 reference

4 November 2017

34

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4 November 2017

2

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4 November 2017

175

1 reference

Structure and organization of the human metaxin gene (MTX) and pseudogene

4 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050881

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050881

Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050881

Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050881

Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050881

Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations

27 May 2018

1 reference

12 December 2020

Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes

1 reference

12 December 2020

Genotype/phenotype correlations in Gaucher's disease

1 reference

12 December 2020

Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype

1 reference

12 December 2020

1342C mutation in Gaucher's disease.

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.2.175

1 reference

4 November 2017

1 reference

4 November 2017

PubMed publication ID

9040001

1 reference