CTNS mutations in African American patients with cystinosis.
By far the most common is a 57257-bp deletion of Northern European origin encompassing most of the CTNS gene. We performed mutation analysis on DNA from
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http://www.ncbi.nlm.nih.gov/pubmed/11708862...
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The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds ...
Despite extensive mutation analysis of patients with cystinosis, the molecular regulation of CTNS, specifically involving its promoter and ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=12...
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Molecular characterization of CTNS deletions in nephropathic ...
The Biomed CF Mutation Analysis Consortium. Hum Mutat. 1997;10(2):135–154. ... CTNS mutations in an American-based population of cystinosis patients. ...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377934/...
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AJHG - CTNS Mutations in an American-Based Population of ...
Mutation analysis of 108 American-based nephropathic cystinosis patients ... By northern blot analysis, CTNS was not expressed in patients homozygous for ...
http://www.cell.com/AJHG/abstract/S0002-9297(07)61566-3...
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Mutational spectrum of the CTNS gene in Italy.
Mutation analysis of the CTNS gene of Caucasian patients revealed a common 57-kb deletion, and several other mutations spread throughout the entire gene. ...
http://www.ncbi.nlm.nih.gov/pubmed/12825071...
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(CTNS[TIAB]) OR (Cystinosis[TIAB]) AND (Genes[MH]) AND english[la ...
1: Tang S, Danda S, Zoleikhaeian M, Simon M, Huang T. An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.
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http://ghr.nlm.nih.gov/exit?to=www.ncbi.nlm.nih.gov&vje=7bH4...
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Cystinosis -- GeneReviews -- NCBI Bookshelf
Gene. CTNS is the only gene known to be associated with cystinosis. Clinical testing. Targeted mutation analysis. In the United States and northern European
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http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
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AJHG - Molecular Characterization of CTNS Deletions in ...
CTNS Mutations in an American-Based Population of Cystinosis. ... Mutation analysis of 108 American-based nephropathic cystinosis patients revealed that 48
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http://www.cell.com/AJHG/abstract/S0002-9297(07)62052-7...
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CTNS (gene) - Wikipedia, the free encyclopedia
18 Oct 2009 ... "A G339R mutation in the CTNS gene is a common cause of nephropathic ... " Analysis of the CTNS gene in patients of German and Swiss origin ...
http://en.wikipedia.org/wiki/CTNS_(gene)...
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AJHG - The Promoter of a Lysosomal Membrane Transporter Gene, CTNS ...
Mutation analysis of 108 American-based nephropathic cystinosis patients .... Although >55 CTNS mutations occur in patients with the lysosomal storage ...
http://www.cell.com/AJHG/abstract/S0002-9297(07)61128-8...
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