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Kiehntopf et al., 2002 - Google Patents

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

Kiehntopf et al., 2002

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Document ID
11844851988859508133
Author
Kiehntopf M
Schickel J
Gönne B
Koch H
Superti‐Furga A
Steinmann B
Deufel T
Harms E
Publication year
Publication venue
Human Mutation

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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 …
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