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Article

Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis

21 Aug 2002

Abstract excerpt

The autosomal recessive lysosomal storage disorder, nephropathic cystinosis is characterized by impaired transport of free cystine out of lysosomes. The gene responsible for cystinosis, CTNS, consists of 12 exons and encodes a 55 kDa putative lysosomal membrane protein, called cystinosin. Up to now more than 55 different CTNS mutations have been described in cystinosis. We have analyzed the mutation pattern in a...

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Identifiers

PMID: 12204010
DOI: 10.1002/humu.9063

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Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosisPMID 12204010Read ↗

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