Загрузка...
A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome
Snyder–Robinson syndrome (SRS, OMIM: 309583) is an X-linked intellectual disability (XLID) syndrome, characterized by a collection of clinical features including facial asymmetry, marfanoid habitus, hypertonia, osteoporosis and unsteady gait. It is caused by a significant decrease or loss of spermin...
Сохранить в:
Главные авторы: | , , , , , , , |
---|---|
Формат: | Artigo |
Язык: | Inglês |
Опубликовано: |
Oxford University Press
2013
|
Предметы: | |
Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3749864/ https://ncbi.nlm.nih.gov/pubmed/23696453 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt229 |
Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|