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Progressive Familial Intrahepatic Cholestasis Type 2 — Gene Therapy & Clinical Trials | FollowGene
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Progressive Familial Intrahepatic Cholestasis Type 2
Progressive Familial Intrahepatic Cholestasis Type 2
Prevalence:
1/100000
hepatic
Official
·
OMIM:601847
Official
·
ORPHA284403
Bile salt export pump defect due to ABCB11 gene mutations.
Associated Genes
ABCB11
ATP Binding Cassette Subfamily B Member 11
Chromosome 2
Autosomal Recessive