title: Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.
authors.affiliation: Genetics, Fundacion Jimenez Diaz, Reyes Catolicos, Madrid, Spain. jaguirre@fjd.es
authors.forename: Jana
authors.initials: J
authors.lastname: Aguirre-Lamban
authors.forename: R
authors.initials: R
authors.lastname: Riveiro-Alvarez
authors.forename: D
authors.initials: D
authors.lastname: Cantalapiedra
authors.forename: A
authors.initials: A
authors.lastname: Avila-Fernandez
authors.forename: E
authors.initials: E
authors.lastname: Vallespin
authors.forename: C
authors.initials: C
authors.lastname: Villaverde-Montero
authors.forename: B
authors.initials: B
authors.lastname: Gomez-Dominguez
authors.forename: C L
authors.initials: CL
authors.lastname: Auz-Alexandre
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D018389:Codon, Nonsense; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009711:Nucleotides / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D003062:Codon; D018389:Codon, Nonsense; D009711:Nucleotides