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Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
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
Doi: 10.4103/sjg.SJG_178_17
(- Case Report)
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- Co-Autor*innen der Med Uni Graz
- Knisely Alexander
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- Abstract:
- 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)
- ATP8B1
- benign recurrent intrahepatic cholestasis
- progressive familial intrahepatic cholestasis
- whole exome sequencing