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SHR Neuro Krebs Kardio Lipid

Narchi, H; Alhefeiti, S; Althabahi, F; Hertecant, J; Knisely, AS; Souid, AK.
Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V).
Saudi J Gastroenterol. 2017; 23(5):303-305 (- Case Report) [OPEN ACCESS]
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Autor/innen der Med Uni Graz:
Knisely Alexander

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We report two Omani brothers with intrahepatic cholestasis that resolved with supportive care. In one, cholestasis began in infancy; in the other, only at the age of 18 months. Whole exome sequencing identified a novel homozygous variant, c.379C>G (p.L127V) in ATP8B1. Those attending patients with cholestasis from the Arabian peninsula should be aware of this mutation and of the variation in its phenotypic effects.
Find related publications in this database (using NLM MeSH Indexing)
Adenosine Triphosphatases - genetics
Adolescent -
Cholestasis, Intrahepatic - genetics
Cholestasis, Intrahepatic - pathology
Cholestasis, Intrahepatic - therapy
Humans -
Infant -
Liver - pathology
Male -
Mutation -
Oman - epidemiology
Phenotype -
Siblings -
Treatment Outcome -
Ursodeoxycholic Acid - therapeutic use
Vitamins - therapeutic use
Whole Exome Sequencing - methods

Find related publications in this database (Keywords)
benign recurrent intrahepatic cholestasis
progressive familial intrahepatic cholestasis
whole exome sequencing
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