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A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.

Indian pediatrics - 15 Dec 2016

Sharma Anjali, Poddar Ujjal, Agnihotry Shikha, Aggarwal Rakesh

Abstract excerpt

BACKGROUND: Progressive familial intrahepatic cholestasis has been only infrequently reported from India. CASE CHARACTERISTICS: An Indian girl with progressive cholestatic liver disease beginning during infancy, normal gamma-glutamyl transpeptidase levels, parental consanguinity, positive family history and a fatal outcome. OBSERVATION: A novel, homozygous mutation (c.[589_592inv;592_593insA]) in ATP8B1 gene,...

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PMID: 28064265

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