Загрузка...

FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

BACKGROUND: Ichthyosis Prematurity Syndrome (IPS) is an autosomal recessive disorder characterized by premature birth, non-scaly ichthyosis and atopic manifestations. The disease was recently shown to be caused by mutations in the gene encoding the fatty acid transport protein 4 (FATP4) and a specif...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Sobol, Maria, Dahl, Niklas, Klar, Joakim
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2011
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3072334/
https://ncbi.nlm.nih.gov/pubmed/21450060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-4-90
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!