Загрузка...
A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency
BACKGROUND: Glucose-6-phosphate dehydrogenase deficiency (D-G6PD) is an X-linked recessive disorder resulted from deleterious variants in the housekeeping gene Glucose-6-phosphate 1-dehydrogenase (G6PD), causing impaired response to oxidizing agents. Screening for new variations of the gene helps wi...
Сохранить в:
| Опубликовано в: : | BMC Med Genet |
|---|---|
| Главные авторы: | , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2020
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7367331/ https://ncbi.nlm.nih.gov/pubmed/32680472 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01090-2 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|