(Q42202098)

18 October 2017

CTNS mutations in publicly-available human cystinosis cell lines (English)

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18 October 2017

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Artem Zykovich

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18 October 2017

Renee Kinkade

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18 October 2017

Gary Royal

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3

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18 October 2017

Todd Zankel

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4

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18 October 2017

27 October 2015

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Molecular Genetics and Metabolism Reports

18 October 2017

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18 October 2017

5

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18 October 2017

63-66

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describes a project that uses

18 October 2017

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Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471396

Cystinosis: the evolution of a treatable disease

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471396

CTNS mutations in African American patients with cystinosis

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471396

Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471396

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471396

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471396

Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471396

CTNS mutations in an American-based population of cystinosis patients

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471396

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471396

10.1016/J.YMGMR.2015.10.007

26 October 2017

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DOI

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18 October 2017

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18 October 2017

1 reference