Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene
dc.contributor.author | Seizinger, Bernd R. | en_US |
dc.contributor.author | Rouleau, G. A. | en_US |
dc.contributor.author | Ozelius, Laurie J. | en_US |
dc.contributor.author | Lane, A. H. | en_US |
dc.contributor.author | Faryniarz, A. G. | en_US |
dc.contributor.author | Chao, M. V. | en_US |
dc.contributor.author | Huson, S. | en_US |
dc.contributor.author | Korf, B. R. | en_US |
dc.contributor.author | Parry, D. M. | en_US |
dc.contributor.author | Pericak-Vance, M. A. | en_US |
dc.date.accessioned | 2006-05-10T15:35:18Z | |
dc.date.available | 2006-05-10T15:35:18Z | |
dc.date.issued | 1987-06-05 | en_US |
dc.identifier.citation | Seizinger, B. R., Rouleau, G. A., Ozelius, L. J., Lane, A. H., Faryniarz, A. G., Chao, M. V., Huson, S., Korf, B. R., Parry, D. M., Pericak-Vance, M. A. (1987/06/05)."Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene." Cell 49(5): 589-594. <http://hdl.handle.net/2027.42/26679> | en_US |
dc.identifier.uri | http://www.sciencedirect.com/science/article/B6WSN-4CB6NN8-HH/2/c074e7d0326bb7b07a994a86739bb47f | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/26679 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=2884037&dopt=citation | en_US |
dc.description.abstract | von Recklinghausen neurofibromatosis (VRNF) is one of the most common inherited disorders affecting the human nervous system. VRNF is transmitted as an autosomal dominant defect with high penetrance but variable expressivity. The disorder is characterized clinically by hyperpigmented patches of skin (cafe au lait macules, axillary freckles) and by multiple tumors of peripheral nerve, spinal nerve roots, and brain (neurofibromas, optic gliomas). These tumors can cause disfigurement, paralysis, blindness, and death. We have determined the chromosomal location of the VRNF gene by genetic linkage analysis using DNA markers. The VRNF gene is genetically linked to the locus encoding nerve growth factor receptor, located on the long arm of chromosome 17 in the region 17q12-->17q22. However, crossovers with the VRNF locus suggest that a mutation in the nerve growth factor receptor gene itself is unlikely to be the fundamental defect responsible for the VRNF phenotype. | en_US |
dc.format.extent | 37592 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.extent | 799552 bytes | |
dc.format.mimetype | text/plain | |
dc.format.mimetype | text/plain | |
dc.format.mimetype | application/pdf | |
dc.language.iso | en_US | en_US |
dc.publisher | Elsevier | en_US |
dc.title | Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationother | Neurogenetics Laboratory, Massachusetts General Hospital, and Department of Genetics, Harvard Medical School, Boston, Massachusetts 02114., USA | en_US |
dc.contributor.affiliationother | Neurogenetics Laboratory, Massachusetts General Hospital, and Department of Genetics, Harvard Medical School, Boston, Massachusetts 02114., USA | en_US |
dc.contributor.affiliationother | Department of Molecular Neurogenetics, E. K. Shriver Center, Waltham, Massachusetts 02254., USA | en_US |
dc.contributor.affiliationother | Neurosurgical Service, Department of Surgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114., USA | en_US |
dc.contributor.affiliationother | Neurogenetics Laboratory, Massachusetts General Hospital, and Department of Genetics, Harvard Medical School, Boston, Massachusetts 02114., USA | en_US |
dc.contributor.affiliationother | Department of Cell Biology and Anatomy, Cornell University Medical College, New York, New York 10021., USA | en_US |
dc.contributor.affiliationother | Section of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom | en_US |
dc.contributor.affiliationother | Department of Genetics, Neurology, Ophthalmology, Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115., USA | en_US |
dc.contributor.affiliationother | Clinical Epidemiology Branch and Radiation Oncology Branch, National Cancer Institute, Bethesda, Maryland 20205., USA | en_US |
dc.contributor.affiliationother | Division of Neurology, Department of Medicine, Duke University, Durham, North Carolina 27710., USA | en_US |
dc.identifier.pmid | 2884037 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/26679/3/0000223.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1016/0092-8674(87)90534-4 | en_US |
dc.identifier.source | Cell | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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