cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product
dc.contributor.author | Marchuk, Douglas A. | en_US |
dc.contributor.author | Saulino, Ann M. | en_US |
dc.contributor.author | Tavakkol, Roxanne | en_US |
dc.contributor.author | Swaroop, Manju | en_US |
dc.contributor.author | Wallace, Margaret R. | en_US |
dc.contributor.author | Andersen, Lone B. | en_US |
dc.contributor.author | Mitchell, Anna L. | en_US |
dc.contributor.author | Gutmann, David H. | en_US |
dc.contributor.author | Boguski, Mark | en_US |
dc.contributor.author | Collins, Francis S. | en_US |
dc.date.accessioned | 2006-04-10T14:30:23Z | |
dc.date.available | 2006-04-10T14:30:23Z | |
dc.date.issued | 1991-12 | en_US |
dc.identifier.citation | Marchuk, Douglas A., Saulino, Ann M., Tavakkol, Roxanne, Swaroop, Manju, Wallace, Margaret R., Andersen, Lone B., Mitchell, Anna L., Gutmann, David H., Boguski, Mark, Collins, Francis S. (1991/12)."cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product." Genomics 11(4): 931-940. <http://hdl.handle.net/2027.42/29018> | en_US |
dc.identifier.uri | http://www.sciencedirect.com/science/article/B6WG1-4DXB8F5-1R/2/0dc76e8685120c760048aa9edc22b335 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/29018 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=1783401&dopt=citation | en_US |
dc.description.abstract | Von Recklinghausen neurofibromatosis, or type 1 neurofibromatosis (NF1), is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the embryonic neural crest. Portions of the gene have been recently identified by positional cloning, and sequence analysis has shown homology to the GTPase activating protein (GAP) family. In this report we present the results of an extensive cDNA walk resulting in the cloning of the complete coding region of the NF1 transcript. Analysis of the sequences reveals an open reading frame of 2818 amino acids, although alternatively spliced products may code for different protein isoforms. The gene extends for approximately 300 kb on chromosome 17, with its promoter in a CpG-rich island. | en_US |
dc.format.extent | 1452109 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Elsevier | en_US |
dc.title | cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product | 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.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbsecondlevel | Biological Chemistry | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Howard Hughes Medical Institute, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Department of Human Genetics, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA. | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Howard Hughes Medical Institute, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Department of Human Genetics, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA. | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Howard Hughes Medical Institute, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Department of Human Genetics, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA. | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Howard Hughes Medical Institute, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Department of Human Genetics, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA. | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Howard Hughes Medical Institute, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Department of Human Genetics, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA. | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Howard Hughes Medical Institute, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Department of Human Genetics, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA. | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Howard Hughes Medical Institute, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Department of Human Genetics, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA. | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Howard Hughes Medical Institute, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Department of Human Genetics, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA. | en_US |
dc.contributor.affiliationum | Department of Human Genetics, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Department of Internal Medicine, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Howard Hughes Medical Institute, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, Maryland 20894, USA. | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Howard Hughes Medical Institute, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA; Department of Human Genetics, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA. | en_US |
dc.identifier.pmid | 1783401 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/29018/1/0000048.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1016/0888-7543(91)90017-9 | en_US |
dc.identifier.source | Genomics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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