Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.
Ars
E
E
Centre de Genética Médica i Molecular - IRO, Hospital Duran i Reynals, Barcelona, Spain.
Kruyer
H
H
Morell
M
M
Pros
E
E
Serra
E
E
Ravella
A
A
Estivill
X
X
Lázaro
C
C
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
D025542:Neurofibromin 1; D004247:DNA