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DC Field | Value | Language |
---|---|---|
dc.contributor.advisor | Akbari, Mohammad Taghi | vi |
dc.contributor.author | Deilamani, Faravareh Khordadpoor | vi |
dc.date.accessioned | 2023-03-28T03:09:19Z | - |
dc.date.available | 2023-03-28T03:09:19Z | - |
dc.date.issued | 2022 | - |
dc.identifier.issn | 2522-8307 | vi |
dc.identifier.uri | http://tailieuso.tlu.edu.vn/handle/DHTL/12605 | - |
dc.description.abstract | Mucopolysaccharidoses IVA is an autosomal recessive lysosomal storage disease resulting in skeletal and cartilage dysplasia. Hematopoietic stem cell transplantation is a good therapeutic option for MPS IV. Here we report the first application of PGD test for MPS IVA and HLA with the purpose of HSCT for the affected son in a family with consanguineous marriage. Haplotype analysis of linked STR markers in GALNS gene and HLA loci as well as variant detection by cycle sequencing were included in our PGD test. | vi |
dc.description.uri | https://link.springer.com/article/10.1186/s42269-022-00972-0 | vi |
dc.language | en_US | vi |
dc.relation.ispartofseries | Bulletin of the National Research Centre, Volume 46 (2022), Article number: 283 | vi |
dc.subject | PGD | vi |
dc.subject | MPS IVA | vi |
dc.subject | GALNS | vi |
dc.subject | HSCT | vi |
dc.title | First report of preimplantation genetic diagnosis of mucopolysaccharidoses IVA and HLA typing for hematopoietic stem cell transplantation | vi |
dc.type | BB | vi |
Appears in Collections: | Tài liệu mở |
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