Neurofibromatosis type I (NF-1), or von Recklinghausen syndrome, is a complex multi-system neurocutaneous disorder caused by a subset of genetic mutations at the neurofibromin 1 …

Neurofibromatosis type 1 (NF1) is a genetic condition that causes changes in skin pigment and tumors on nerve tissue. Skin changes include flat, light brown spots and freckles in the armpits …

1998年10月2日 · Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning …

NF1 Gene — What causes neurofibromatosis type 1? Neurofibromatosis type 1 is caused by a change in the NF1 gene, which is found on chromosome 17. Some people with NF1 have …

2024年12月25日 · NF1 (Neurofibromin 1) is a Protein Coding gene. Diseases associated with NF1 include Neurofibromatosis-Noonan Syndrome and Neurofibromatosis, Type I . Among its …

Neurofibromin (NF-1) is a protein that is encoded in humans, in the NF1 gene. [5] NF1 is located on chromosome 17. [6] [7] [8] Neurofibromin, a GTPase-activating protein that negatively …

Mutations in the NF1 gene cause neurofibromatosis type 1. The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many cells, including …

The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many types of cells, including nerve cells and specialized cells called …

1 天前 · The genetic variants in PMBB exome sequencing data were subset to include only the NF1 gene locus and were subsequently annotated using the Ensembl Variant Effect Predictor …

2025年3月8日 · Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA …