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Identification of two novel frame shift mutations of the NF1 gene in Korean patients with neurofibromatosis type 1.
Neurofibromatos is type 1 (NF1) is one of the most common inherited disorders and is characterized by abnormalities in multiple tissues derived from the neural crest. The NF-1 gene has been cloned and mapped to human chromosome 17q11.2. The NF-1 gene has an open reading frame that predicts a protein...
| Autores principales: | , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Korean Academy of Medical Sciences
2000
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054687/ https://www.ncbi.nlm.nih.gov/pubmed/11068991 |