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Progressive Familial Intrahepatic Cholestasis Type 3

Prevalence: 1/100000
hepatic
Official·OMIM:602347Official·ORPHA284403

Phospholipid transport defect due to ABCB4 gene mutations.

Associated Genes

ABCB4ATP Binding Cassette Subfamily B Member 4
Chromosome 7Autosomal Recessive