title: Significant liver disease in a patient with Y116H mutation in the MVK gene.
authors.affiliation: Division of Gastroenterology, Hepatology and Nutrition, University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA.
authors.forename: Melissa
authors.initials: M
authors.lastname: Leyva-Vega
authors.forename: Pamela F
authors.initials: PF
authors.lastname: Weiss
authors.forename: Jaya
authors.initials: J
authors.lastname: Ganesh
authors.forename: Laura
authors.initials: L
authors.lastname: Conlin
authors.forename: Nancy B
authors.initials: NB
authors.lastname: Spinner
authors.forename: Randolph P
authors.initials: RP
authors.lastname: Matthews
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D006505:Hepatitis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency* / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D053590:Interleukin 1 Receptor Antagonist Protein; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase