Somatic mosaicism in a patient with neurofibromatosis type 1.

Using loss of heterozygosity analysis, a method designed to detect moderate to large gene deletions, we have identified a new-mutation neurofibromatosis type 1 (NF1) patient who is somatically mosaic for a large maternally derived deletion in the NF1 gene region. The deletion extends at least from e...

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Détails bibliographiques
Auteurs principaux: Colman, S. D., Rasmussen, S. A., Ho, V. T., Abernathy, C. R., Wallace, M. R.
Format: Artigo
Langue:Inglês
Publié: 1996
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914580/
https://ncbi.nlm.nih.gov/pubmed/8644707
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