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The Spectrum of NF1 Mutations in Korean Patients with Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans. NF1 is caused by mutations in the NF1 gene which consists of 57 exons and encodes a GTPase activating protein (GAP), neurofibromin. To date, more than 640 different NF1 mutations have been identified and...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Korean Academy of Medical Sciences
2006
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2733956/ https://ncbi.nlm.nih.gov/pubmed/16479075 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2006.21.1.107 |
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