(Q37216211)

19 August 2017

0 references

Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population (English)

1 reference

19 August 2017

mucolipidosis type IV

1 reference

3

Robert J Desnick

1 reference

19 August 2017

Lisa Edelmann

1

1 reference

19 August 2017

Jianli Dong

series ordinal

2

1 reference

19 August 2017

Ruth Kornreich

series ordinal

4

1 reference

19 August 2017

language of work or name

English

0 references

publication date

13 February 2002

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

70

1 reference

19 August 2017

4

1 reference

19 August 2017

1023-1027

1 reference

Human disease: calcium signaling in polycystic kidney disease

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379096

Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379096

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379096

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379096

Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379096

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379096

Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379096

Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379096

Ocular abnormalities in mucolipidosis IV.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379096

Mucolipidosis type IV: clinical spectrum and natural history.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379096

Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379096

Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379096

Identification of the gene causing mucolipidosis type IV.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379096

Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis

3 September 2018

1 reference

12 December 2020

A simplified procedure for developing multiplex PCRs

1 reference

12 December 2020

Mucolipidosis type IV: abnormal transport of lipids to lysosomes

1 reference

12 December 2020

Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population

1 reference

12 December 2020

Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population

1 reference

12 December 2020

Identifiers

DOI

10.1086/339519

1 reference

19 August 2017

1 reference

19 August 2017

1 reference