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- W2056558535 abstract "Recent advances in molecular genetics have enabled researchers to more rapidly identify human disease genes. The identification of these genes by positional cloning has opened the door to a better understanding of such diseases through a more complete appreciation of the molecular biologic processes that underlie them. In this review, the approaches taken to dissect the function of the gene for von Recklinghausen neurofibromatosis are presented. These general approaches involve identification of the protein product, determination of its relation to other known proteins, analysis of its distribution in tissues, within cells, and over development, and dissection of its role in producing the disease phenotype. Last, the insights gained from studying the molecular biology of the neurofibromatosis type 1 gene have direct impact on other biologic processes, such as neoplasia, cellular differentiation, and growth factor-mediated signal transduction as well as potential application to improved treatments for neurofibromatosis type 1 and cancer." @default.
- W2056558535 created "2016-06-24" @default.
- W2056558535 creator A5065106421 @default.
- W2056558535 date "1993-11-01" @default.
- W2056558535 modified "2023-09-22" @default.
- W2056558535 title "Neurofibromatosis Type 1" @default.
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- W2056558535 doi "https://doi.org/10.1001/archneur.1993.00540110065007" @default.
- W2056558535 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8215978" @default.
- W2056558535 hasPublicationYear "1993" @default.
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