Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism

BACKGROUND: Biliary atresia (BA) is the most common obstructive cholangiopathy in neonates, often progressing to end-stage cirrhosis. BA pathogenesis is believed to be multifactorial, but the genetic contribution, especially for nonsyndromic BA (common form: > 85%) remains poorly defined. METHODS...

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Detalles Bibliográficos
Autores principales: Lam, Wai-Yee, Tang, Clara Sze-Man, So, Man-Ting, Yue, Haibing, Hsu, Jacob Shujui, Chung, Patrick Ho-Yu, Nicholls, John M., Yeung, Fanny, Lee, Chun-Wai Davy, Ngo, Diem Ngoc, Nguyen, Pham Anh Hoa, Mitchison, Hannah M., Jenkins, Dagan, O'Callaghan, Christopher, Garcia-Barceló, Maria-Mercè, Lee, So-Lun, Sham, Pak-Chung, Lui, Vincent Chi-Hang, Tam, Paul Kwong-Hang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8403738/
https://www.ncbi.nlm.nih.gov/pubmed/34455394
http://dx.doi.org/10.1016/j.ebiom.2021.103530

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8403738/
https://www.ncbi.nlm.nih.gov/pubmed/34455394
http://dx.doi.org/10.1016/j.ebiom.2021.103530

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