title: X-linked ichthyosis in a patient with a novel nonsense mutation in the STS gene.
authors.affiliation: Departamento de Genética Médica, Hospital General de México, Mexico.
authors.forename: Maria
authors.initials: M
authors.lastname: del Refugio Rivera Vega
authors.affiliation: Departamento de Genética Médica, Hospital General de México, Mexico.
authors.forename: Mauricio R
authors.initials: MR
authors.lastname: Murillo-Vilches
authors.affiliation: Departamento de Genética Médica, Centro Médico Ecatepec, ISSEMYM Edo. Mexico, Mexico.
authors.forename: Jaime
authors.initials: J
authors.lastname: Toral-Lopez
authors.affiliation: Departamento de Dermatología, Hospital General de México, Mexico City, Mexico.
authors.forename: Etna Guerrero
authors.initials: EG
authors.lastname: Sanchez
authors.affiliation: Departamento de Dermatología, Hospital General de México, Mexico City, Mexico.
authors.forename: Andres Tirado
authors.initials: AT
authors.lastname: Sanchez
authors.affiliation: Departamento de Genética Médica, Hospital General de México, Facultad de Medicina, UNAM, Mexico City, Mexico.
authors.forename: Luz M
authors.initials: LM
authors.lastname: González-Huerta
authors.affiliation: Departamento de Genética Médica, Hospital General de México, Facultad de Medicina, UNAM, Mexico City, Mexico. Electronic address: sergiocuevasunam@gmail.com.
authors.forename: Sergio A
authors.initials: SA
authors.lastname: Cuevas-Covarrubias
mesh_terms: D002648:Child; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D030562:Databases, Protein; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008958:Models, Molecular; D010375:Pedigree; D010641:Phenotype; D011487:Protein Conformation; D043266:Steryl-Sulfatase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D013329:Structure-Activity Relationship
chemical_list: D018389:Codon, Nonsense; C584039:STS protein, human; D043266:Steryl-Sulfatase