Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a hepatic disorder occurring predominantly in childhood and is difficult to diagnose. PFIC3, being a rare autosomal recessive disease, is caused by genetic mutations in both alleles of ABCB4, resulting in the disruption of the bile secr...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Dis Markers
Hlavní autoři: Saleem, Komal, Cui, Qingbo, Zaib, Tahir, Zhu, Siqi, Qin, Qian, Wang, Yusi, Dam, Jinxi, Ji, Wei, Liu, Peng, Jia, Xueyuan, Wu, Jie, Bai, Jing, Fu, Songbin, Sun, Wenjing
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi 2020
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7315263/
https://ncbi.nlm.nih.gov/pubmed/32626542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/6292818
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky