A novel mutation c.457C > T p.Q153 in the HMBS gene in a Mexican woman with acute intermittent porphyria
Key Clinical Message The detection of a novel HMBS gene mutation (c.457C > T) in a Mexican woman with acute intermittent porphyria underscores the importance of expanding genetic analyses in diverse populations to improve diagnosis, management, and knowledge of the disease's clinical implications. A...
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| Главные авторы: | , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Wiley
2023-11-01
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| Серии: | Clinical Case Reports |
| Предметы: | |
| Online-ссылка: | https://doi.org/10.1002/ccr3.8100 |
| Метки: |
Нет меток, Требуется 1-ая метка записи!
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