Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

E. Ars, H. Kruyer, M. Morell, E. Pros, E. Serra, A. Ravella, Xavier P. Estivill, C. Lázaro

Research output: Contribution to journalArticle

99 Citations (Scopus)
Original languageEnglish
JournalJournal of Medical Genetics
Volume40
Issue number6
Publication statusPublished - Jun 2003
Externally publishedYes

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Post Transcriptional RNA Processing
Neurofibromatosis 1 Genes
Neurofibromin 1
Plexiform Neurofibroma
Cafe-au-Lait Spots
Optic Nerve Glioma
Neurofibroma
Neurofibromatosis 1
Learning Disorders
Alternative Splicing
Scoliosis
Skin Neoplasms
Preschool Children
Amino Acid Substitution
Intellectual Disability
Genotype
Newborn Infant
Phenotype
Recurrence
Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Ars, E., Kruyer, H., Morell, M., Pros, E., Serra, E., Ravella, A., ... Lázaro, C. (2003). Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. Journal of Medical Genetics, 40(6).

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. / Ars, E.; Kruyer, H.; Morell, M.; Pros, E.; Serra, E.; Ravella, A.; Estivill, Xavier P.; Lázaro, C.

In: Journal of Medical Genetics, Vol. 40, No. 6, 06.2003.

Research output: Contribution to journalArticle

Ars, E, Kruyer, H, Morell, M, Pros, E, Serra, E, Ravella, A, Estivill, XP & Lázaro, C 2003, 'Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.', Journal of Medical Genetics, vol. 40, no. 6.
Ars E, Kruyer H, Morell M, Pros E, Serra E, Ravella A et al. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. Journal of Medical Genetics. 2003 Jun;40(6).
Ars, E. ; Kruyer, H. ; Morell, M. ; Pros, E. ; Serra, E. ; Ravella, A. ; Estivill, Xavier P. ; Lázaro, C. / Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. In: Journal of Medical Genetics. 2003 ; Vol. 40, No. 6.
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