載入...
Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India
BACKGROUND: Tay-Sachs disease (TSD) is a sphingolipid storage disorder caused by mutations in the HEXA gene. To date, nearly 170 mutations of HEXA have been described, including only one 7.6 kb large deletion. METHODS: Multiplex Ligation-dependent Probe Amplification (MLPA) study was carried out in...
Na minha lista:
| 發表在: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2018
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6032535/ https://ncbi.nlm.nih.gov/pubmed/29973161 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0632-7 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|