Literature DB >> 11565547

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.

C A Rupar, D Matsell, S Surry, V Siu.   

Abstract

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Year:  2001        PMID： 11565547      PMCID： PMC1734937          DOI： 10.1136/jmg.38.9.615

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  7 in total

1.  Amish, mennonite, and hutterite genetic disorder database.

Authors:  Michael Payne; C Anthony Rupar; Geoffrey M Siu; Victoria Mok Siu
Journal:  Paediatr Child Health       Date:  2011-03       Impact factor: 2.253

2.  Slow progression of renal failure in a child with infantile cystinosis.

Authors:  Maria Bitsori; Eleni Vergadi; Emmanouil Galanakis
Journal:  CEN Case Rep       Date:  2018-02-14

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

Authors:  Mohammad Al-Haggar
Journal:  World J Nephrol       Date:  2013-11-06

4.  Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.

Authors:  Mariem El Younsi; Médiha Trabelsi; Sandra Ben Youssef; Inès Ouertani; Yousra Hammi; Ahlem Achour; Faouzi Maazoul; Maher Kharrat; Tahar Gargah; Ridha M'rad
Journal:  Pediatr Nephrol       Date:  2022-04-20       Impact factor: 3.714

Review 5.  New aspects of the pathogenesis of cystinosis.

Authors:  Vasiliki Kalatzis; Corinne Antignac
Journal:  Pediatr Nephrol       Date:  2003-02-27       Impact factor: 3.714

6.  Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.

Authors:  Neveen A Soliman; Mohamed A Elmonem; Lambertus van den Heuvel; Rehab H Abdel Hamid; Mohamed Gamal; Inge Bongaers; Sandrine Marie; Elena Levtchenko
Journal:  JIMD Rep       Date:  2014-01-25

7.  Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation.

Authors:  Kozina A Anastasiya; Okuneva G Elena; Baryshnikova V Natalia; Krasnenko Yu Anna; Tsukanov Yu Kirill; Klimchuk I Olesya; Nikishina A Tatiana; Fedoniuk D Inessa; Surkova I Ekaterina; Shatalov A Peter; Ilinsky V Valery
Journal:  Clin Case Rep       Date:  2018-08-11
  7 in total

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