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GENATLAS PHENOTYPE |
last update : 19/06/2006 |
Symbol | CLOJ |
Location | 17p13.3 |
Name | cystinosis, late-onset juvenile or adolescent nephropathic type |
Other name(s) | cystinosis, intermediate |
Corresponding gene | CTNS |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | kidney and urinary tract |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/loss of function
| an intronic mutation, C-to-G transversion at nucleotide 801 -10, resulting in the formation of an alternative splice site upstream of the normal site
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