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Three Novel Mutations in Iranian Patients with Tay-Sachs Disease

Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutat...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Jamali, Solmaz, Eskandari, Nasim, Aryani, Omid, Salehpour, Shadab, Zaman, Talieh, Kamalidehghan, Behnam, Houshmand, Massoud
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Pasteur Institute of Iran 2014
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3933921/
https://ncbi.nlm.nih.gov/pubmed/24518553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6091/ibj.1137.2013
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