Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

Alagille syndrome is an autosomal dominant disease with a known molecular etiology of dysfunctional Notch signaling caused primarily by pathogenic variants in JAGGED1 (JAG1), but also by variants in NOTCH2. The majority of JAG1 variants result in loss of function, however disease has also been attri...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: Gilbert, Melissa A., Bauer, Robert C., Rajagopalan, Ramakrishnan, Grochowski, Christopher M., Chao, Grace, McEldrew, Deborah, Nassur, James A., Rand, Elizabeth B., Krock, Bryan L., Kamath, Binita M., Krantz, Ian D., Piccoli, David A., Loomes, Kathleen M., Spinner, Nancy B.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2019
Konular:
Mutation Update
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6899717/
https://ncbi.nlm.nih.gov/pubmed/31343788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23879
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller