Загрузка...
Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations
Alkaptonuria (AKU) is a rare autosomal recessive disorder with incidence ranging from 1:100,000 to 1:250,000. The disorder is caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase (HGD), which results from defects in the HGD gene. This enzyme converts homogentisic acid to maleylacetoace...
Сохранить в:
| Опубликовано в: : | JIMD Rep |
|---|---|
| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Springer Berlin Heidelberg
2015
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4582018/ https://ncbi.nlm.nih.gov/pubmed/25681086 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_380 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|