title: The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.
authors.forename: Vered
authors.initials: V
authors.lastname: Molho-Pessach
authors.forename: José
authors.initials: J
authors.lastname: Suarez
authors.forename: Christophe
authors.initials: C
authors.lastname: Perrin
authors.forename: Christine
authors.initials: C
authors.lastname: Chiaverini
authors.forename: Victoria
authors.initials: V
authors.lastname: Doviner
authors.forename: Enriqueta
authors.initials: E
authors.lastname: Tristan-Clavijo
authors.forename: Isabel
authors.initials: I
authors.lastname: Colmenero
authors.forename: Fabienne
authors.initials: F
authors.lastname: Giuliano
authors.forename: Antonio
authors.initials: A
authors.lastname: Torrelo
authors.forename: Abraham
authors.initials: A
authors.lastname: Zlotogorski
mesh_terms: D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000737:chemistry; D001483:Base Sequence; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D010375:Pedigree; D010858:Pigmentation; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid; D012871:Skin Diseases / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
chemical_list: D000596:Amino Acids; D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human