title: Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency.
authors.affiliation: Metabolic Disease Center, Baylor University Medical Center, Dallas, Texas, USA.
authors.forename: B
authors.initials: B
authors.lastname: Goebel-Schreiner
authors.forename: R
authors.initials: R
authors.lastname: Schreiner
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: K M
authors.initials: KM
authors.lastname: Gibson
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency* / Q000378:metabolism
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase