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A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).
The abnormality in the gene coding for the beta-hexosaminidase alpha subunit was analyzed in a non-Jewish patient with clinically typical infantile Tay-Sachs disease. The family was Catholic, and the father and the mother were of Irish and German descent, respectively. A hitherto undescribed single...
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| Главные авторы: | , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
1990
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1683872/ https://ncbi.nlm.nih.gov/pubmed/2144098 |
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