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Progressive Familial Intrahepatic Cholestasis Type 1 — Gene Therapy & Clinical Trials | FollowGene
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Progressive Familial Intrahepatic Cholestasis Type 1
Progressive Familial Intrahepatic Cholestasis Type 1
Prevalence:
1/100000
hepatic
Official
·
OMIM:211600
Official
·
ORPHA284403
Intrahepatic cholestasis due to ATP8B1 gene mutations.
Associated Genes
ATP8B1
ATPase Phospholipid Transporting 8B1
Chromosome 18
Autosomal Recessive