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Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese
dc.contributor.authorHatta, Nobuakien_US
dc.contributor.authorHoriuchi, Takahikoen_US
dc.contributor.authorOhtsuka, Hisashien_US
dc.contributor.authorMatsumoto, Mitsuruen_US
dc.contributor.authorKobayashi, Yuzuruen_US
dc.contributor.authorCollins, Francis S.en_US
dc.contributor.authorFujita, Shigeruen_US
dc.date.accessioned2006-09-11T19:13:00Z
dc.date.available2006-09-11T19:13:00Z
dc.date.issued1994-01en_US
dc.identifier.citationHoriuchi, Takahiko; Hatta, Nobuaki; Matsumoto, Mitsuru; Ohtsuka, Hisashi; Collins, Francis S.; Kobayashi, Yuzuru; Fujita, Shigeru; (1994). "Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese." Human Genetics 93(1): 81-83. <http://hdl.handle.net/2027.42/47635>en_US
dc.identifier.issn0340-6717en_US
dc.identifier.issn1432-1203en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/47635
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=7903661&dopt=citationen_US
dc.description.abstractWe report two familial cases of NF1 presenting as C to T transitions changing an Arg-1947 codon to a stop codon. In one of the two families, cosegregation of the mutation with NF1 was demonstrated, indicating this mutation causes the disease in this family. As the same mutation at Arg-1947 has been reported previously in three cases of unrelated Caucasians (two are sporadic; the origin of the other is not reported), the codon at Arg-1947 (CGA) in the NF1 gene is considered to be a hotspot common among different ethnic groups and also among familial and sporadic cases.en_US
dc.format.extent449909 bytes
dc.format.extent3115 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.language.isoen_US
dc.publisherSpringer-Verlagen_US
dc.subject.otherInternal Medicineen_US
dc.subject.otherMolecular Medicineen_US
dc.subject.otherHuman Geneticsen_US
dc.subject.otherBiomedicineen_US
dc.subject.otherMetabolic Diseasesen_US
dc.titleNonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japaneseen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelMolecular, Cellular and Developmental Biologyen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbsecondlevelBiological Chemistryen_US
dc.subject.hlbtoplevelScienceen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumHoward Hughes Medical Institute, University of Michigan Medical Center, 48109-0650, Ann Arbor, MI, USAen_US
dc.contributor.affiliationotherFirst Department of Internal Medicine, Ehime University, Shigenobu, 791-02, Ehime, Japanen_US
dc.contributor.affiliationotherFirst Department of Internal Medicine, Ehime University, Shigenobu, 791-02, Ehime, Japanen_US
dc.contributor.affiliationotherFirst Department of Internal Medicine, Ehime University, Shigenobu, 791-02, Ehime, Japanen_US
dc.contributor.affiliationotherFirst Department of Internal Medicine, Ehime University, Shigenobu, 791-02, Ehime, Japanen_US
dc.contributor.affiliationotherDepartment of Dermatology, School of Medicine, Ehime University, 791-02, Ehime, Japanen_US
dc.contributor.affiliationotherFirst Department of Internal Medicine, Ehime University, Shigenobu, 791-02, Ehime, Japanen_US
dc.contributor.affiliationumcampusAnn Arboren_US
dc.identifier.pmid7903661en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/47635/1/439_2004_Article_BF00218920.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1007/BF00218920en_US
dc.identifier.sourceHuman Geneticsen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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