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Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia
Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder, manifested with neurofibromas and Cafe´-au-lait spots. Germline mutations in NF1 gene are associated with Neurofibromatosis type 1. NF1 gene encodes neurofibromin, a RAS-specific GTPase activating protein...
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| Publicado no: | Oncotarget |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Impact Journals LLC
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5503644/ https://ncbi.nlm.nih.gov/pubmed/27980226 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.13932 |
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