טוען...
Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.
Tay-Sachs disease is a lethal neurodegenerative disorder caused by deficiency of the lysosomal enzyme beta-hexosaminidase A and inherited in an autosomal recessive fashion; carriers of the disease are 10 times more frequent in the Ashkenazi Jewish community than in the general population. Over 90% o...
שמור ב:
| Main Authors: | , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
1991
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1016801/ https://ncbi.nlm.nih.gov/pubmed/1828838 |
| תגים: |
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