Загрузка...
Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.
We have characterized a mutation in the type II collagen gene (COL2A1) that produces a form of spondyloepiphyseal dysplasia. The mutation is an internal tandem duplication of 45 base pairs within exon 48 and results in the addition of 15 amino acids to the triple-helical domain of the alpha 1 chains...
Сохранить в:
| Главные авторы: | , , , |
|---|---|
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
1990
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC54009/ https://ncbi.nlm.nih.gov/pubmed/2339128 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|