Yüklüyor......

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

Short-rib polydactyly syndromes (SRPS) and Asphyxiating thoracic dystrophy (ATD) or Jeune Syndrome are recessively inherited skeletal ciliopathies characterized by profound skeletal abnormalities and are frequently associated with polydactyly and multiorgan system involvement. SRPS are produced by m...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Sci Rep
Asıl Yazarlar: Duran, Ivan, Taylor, S. Paige, Zhang, Wenjuan, Martin, Jorge, Forlenza, Kimberly N., Spiro, Rhonda P., Nickerson, Deborah A., Bamshad, Michael, Cohn, Daniel H., Krakow, Deborah
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2016
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5035930/
https://ncbi.nlm.nih.gov/pubmed/27666822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep34232
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!