[PDF.62mn] The Molecular Biology of Neurofibromatosis Type 1 (Colloquium Series on Genomic and Molecular Medicine)

The Molecular Biology of Neurofibromatosis Type 1 (Colloquium Series on Genomic and Molecular Medicine)

[PDF.xw49] The Molecular Biology of Neurofibromatosis Type 1 (Colloquium Series on Genomic and Molecular Medicine)

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 | #7045243 in Books |  2014-02-08 | Original language:English | PDF # 1 |  9.25 x.19 x7.50l,.34 | File type: PDF | 79 pages

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||About the Author|Institute of Medical Genetics, Cardiff University School of Medicine, UK

Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. The NF1 gene contains 61 exons that give rise to 12kb mRNA encoding neurofibromin. The 327kDa (2,818 amino acid) neurofibromin protein is expressed in most tissues and has a number of alternative isoforms. Neurofib...

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