Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases
To date, several genetic variants that lead to a deficiency of chitotriosidase activity have been described. The duplication of 24 bp (dup24bp) in exon 10 of the CHIT1 gene, which causes a complete loss of enzymatic activity of the gene product, is the most common among the European population. The...
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| Format: | Article |
| Language: | English |
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National Academy of Sciences of Ukraine, Palladin Institute of Biochemistry
2016-02-01
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| Series: | The Ukrainian Biochemical Journal |
| Online Access: | http://ukrbiochemjournal.org/wp-content/uploads/2016/03/Olkhovych_1_16.pdf |