title: Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.
authors.affiliation: Centre de Genética Médica i Molecular - IRO, Hospital Duran i Reynals, Barcelona, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Ars
authors.forename: H
authors.initials: H
authors.lastname: Kruyer
authors.forename: M
authors.initials: M
authors.lastname: Morell
authors.forename: E
authors.initials: E
authors.lastname: Pros
authors.forename: E
authors.initials: E
authors.lastname: Serra
authors.forename: A
authors.initials: A
authors.lastname: Ravella
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: C
authors.initials: C
authors.lastname: Lázaro
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D019080:Cafe-au-Lait Spots / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D016514:Genes, Neurofibromatosis 1; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007859:Learning Disabilities / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009455:Neurofibroma / Q000235:genetics; D018318:Neurofibroma, Plexiform / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1 / Q000737:chemistry / Q000235:genetics; D020339:Optic Nerve Glioma / Q000235:genetics; D010641:Phenotype; D012323:RNA Processing, Post-Transcriptional / Q000235:genetics; D012008:Recurrence; D012600:Scoliosis / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics
chemical_list: D025542:Neurofibromin 1; D004247:DNA