Загрузка...
Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa
RATIONALE: Epidermolysis bullosa (EB) refers to a group of rare inherited mechanobullous disorders that present with great clinical and genetic heterogeneity. Its severity ranges from mild blistering to life-threatening. However, the clinical symptoms of different types of EB overlap significantly,...
Сохранить в:
| Опубликовано в: : | Medicine (Baltimore) |
|---|---|
| Главные авторы: | , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Wolters Kluwer Health
2018
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6310585/ https://ncbi.nlm.nih.gov/pubmed/30544381 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000013225 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|