title: Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure.
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53221, USA.
authors.forename: Vi
authors.initials: V
authors.lastname: Goh
authors.forename: Daniel
authors.initials: D
authors.lastname: Helbling
authors.forename: Vincent
authors.initials: V
authors.lastname: Biank
authors.forename: Jason
authors.initials: J
authors.lastname: Jarzembowski
authors.forename: David
authors.initials: D
authors.lastname: Dimmock
mesh_terms: D002779:Cholestasis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D005198:Fanconi Syndrome / Q000150:complications / Q000175:diagnosis; D005260:Female; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D017114:Liver Failure, Acute / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D024101:Mitochondrial Proteins; D017354:Point Mutation
chemical_list: D005819:Genetic Markers; D024101:Mitochondrial Proteins; D004265:DNA Helicases; C431576:TWNK protein, human