title: Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome.
authors.affiliation: O. U. Metabolic Diseases, Clinical Genetics and Diabetes, Pediatric Hospital Giovanni XXIII, Bari, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Piccinno
authors.forename: F
authors.initials: F
authors.lastname: Ortolani
authors.forename: M
authors.initials: M
authors.lastname: Vendemiale
authors.forename: A
authors.initials: A
authors.lastname: Tummolo
authors.forename: M
authors.initials: M
authors.lastname: Masciopinto
authors.forename: M P
authors.initials: MP
authors.lastname: Natale
authors.forename: A
authors.initials: A
authors.lastname: De Luca
authors.forename: E
authors.initials: E
authors.lastname: Agolini
authors.forename: C
authors.initials: C
authors.lastname: Aloi
authors.forename: A
authors.initials: A
authors.lastname: Salina
authors.forename: G
authors.initials: G
authors.lastname: D'Annunzio
authors.forename: R
authors.initials: R
authors.lastname: Fischetto
authors.forename: F
authors.initials: F
authors.lastname: Papadia
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics*; D005190:Family; D005260:Female; D006720:Homozygote; D006801:Humans; D007558:Italy; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D014929:Wolfram Syndrome / Q000235:genetics*; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; C114987:wolframin protein