title: Two novel missense mutations causing adrenoleukodystrophy in Italian patients.
abstract: The authors present two new missense mutations in exon 1 of the adrenoleukodystrophy (ALD) gene. The first, a C813T transition, results in the substitution Pro143 Ser in the third putative transmembrane domain of the adrenoleukodystrophy protein (ALDP) in an adult onset case. The second, a de novo C709T transition, results in a substitution Ser 108 Leu between the second and the third putative transmembrane segments, in a childhood case.
authors.affiliation: Ist. Biologia e Genetica, Università di Verona, Italia.
authors.forename: C
authors.initials: C
authors.lastname: Perusi
authors.forename: M
authors.initials: M
authors.lastname: Gomez-Lira
authors.forename: M
authors.initials: M
authors.lastname: Mottes
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: M
authors.initials: M
authors.lastname: Cappa
authors.forename: M C
authors.initials: MC
authors.lastname: Vigliani
authors.forename: D
authors.initials: D
authors.lastname: Schiffer
authors.forename: N
authors.initials: N
authors.lastname: Rizzuto
authors.forename: A
authors.initials: A
authors.lastname: Salviati
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D007558:Italy; D007930:Leucine / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D011392:Proline / Q000235:genetics; D012694:Serine / Q000235:genetics
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D008565:Membrane Proteins; D012694:Serine; D011392:Proline; D007930:Leucine