Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease
Abstract 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 las...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2019-01-01T00:00:00Z.
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