title: Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
authors.affiliation: Center for Study of Inborn Errors of Metabolism, CEMECO, Pediatric Clinical Department, Children's Hospital and National University of Cordoba, Córdoba, Argentinia. cytiam@hotmail.com
authors.forename: Cyntia Anabel
authors.initials: CA
authors.lastname: Amorosi
authors.forename: Helena
authors.initials: H
authors.lastname: Treslova
authors.forename: Raquel
authors.initials: R
authors.lastname: Dodelson de Kremer
authors.forename: María José
authors.initials: MJ
authors.lastname: Coll
authors.forename: Lenka
authors.initials: L
authors.lastname: Dvoráková
authors.forename: Ana María
authors.initials: AM
authors.lastname: Oller Ramírez
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000235:genetics*; D001118:Argentina; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D005091:Exons; D016368:Frameshift Mutation; D057898:Hemizygote; D006801:Humans; D008297:Male; D016366:Open Reading Frames; D017384:Sequence Deletion
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D003062:Codon; D018389:Codon, Nonsense