A novel compound heterozygous mutation in ABCB4 gene in a pedigree with progressive familial intrahepatic cholestasis 3: a case report

Progressive familial intrahepatic cholestasis (PFIC) includes a group of genetic autosomal recessive disorders that predominantly affects young children and results in early-onset progressive liver damage. Variations in ABCB4 have been shown to cause PFIC3. However, the association between ABCB4 gen...

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Detaylı Bibliyografya
Yayımlandı:Ann Transl Med
Asıl Yazarlar: Bai, Jie, Li, Lu, Liu, Hui, Liu, Shuang, Bai, Li, Ning, Hanbing, Song, Wenyan, Zou, Huaibin, Wang, Xinxin, Chen, Yu, Zheng, Sujun, Duan, Zhongping
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: AME Publishing Company 2021
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8033375/
https://ncbi.nlm.nih.gov/pubmed/33842647
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm-20-3747
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