Associated Papers
Patterns and unique features of infantile cholestasis among Arabs.
Al-Hussaini A et al.
Frontiers in Pediatrics, 2024
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
El-Hattab AW et al.
Human Mutation, 2018
Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.
Gilberti M et al.
Plos One, 2018
30273399 (PubMed )
Supplement: pone.0205014.s003.doc
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
Al-Hussaini A et al.
The Journal of Pediatrics, 2014
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
Uusimaa J et al.
European Journal of Human Genetics : Ejhg, 2014
Select a paper to view details