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Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities.

AuthorsM E Baser, L Kluwe, V F Mautner
JournalAmerican journal of human genetics (Am J Hum Genet) Vol. 64 Issue 4 Pg. 1230-3 (Apr 1999) ISSN: 0002-9297 [Print] United States
PMID10090912 (Publication Type: Letter, Research Support, Non-U.S. Gov't)
Topics
  • Adolescent
  • Adult
  • Exons (genetics)
  • Genes, Neurofibromatosis 2
  • Genetic Variation (genetics)
  • Genotype
  • Germ-Line Mutation (genetics)
  • Hamartoma (genetics, pathology, physiopathology)
  • Humans
  • Male
  • Neurofibromatosis 2 (genetics, pathology, physiopathology)
  • Phenotype
  • Retina (abnormalities, pathology, physiopathology)

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