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Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a group of genetic autosomal recessive disorders that predominantly affects young children and results in early-onset progressive liver damage. Several types of PFIC were defined based on different genetic aetiologies in last decade...
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| Pubblicato in: | BMC Med Genet |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6339326/ https://ncbi.nlm.nih.gov/pubmed/30658709 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0753-7 |
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