2018-09-01
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients
Publication
Publication
Clinica Chimica Acta , Volume 484 p. 231
1. Letter to the editor
In November 2011 a paper was published in the Clinica Chimica Acta by Ouesleti et al. entitled ‘Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients’. The researchers describe variants found in seven patients with a severe phenotype of Sanfilippo disease.
Our attention was specifically drawn to the variants found in the HGSNAT gene encoding the enzyme acetyl-CoA:α-glucosaminide N-acetyltransferase (HGSNAT; EC 2.3.1.78) on chromosome 8p11, causing MPS IIIC. The HGSNAT gene was sequenced in three patients from two MPS IIIC families. [...]
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| doi.org/10.1016/j.cca.2018.06.003, hdl.handle.net/1765/108755 | |
| Clinica Chimica Acta | |
| Organisation | Department of Clinical Genetics |
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Deden, C., van Slegtenhorst, M., Ruijter, G., Schoonderwoerd, K., Huidekoper, H. H., Oussoren, E., … Demirdas, S. (2018). Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients. Clinica Chimica Acta, 484. doi:10.1016/j.cca.2018.06.003 |
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