Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology
dc.contributor.author | Uhlmann, Wendy R. | en_US |
dc.contributor.author | Peñaherrera, Maria S. | en_US |
dc.contributor.author | Robinson, Wendy P. | en_US |
dc.contributor.author | Milunsky, Jeff M. | en_US |
dc.contributor.author | Nicholson, Jane M. | en_US |
dc.contributor.author | Albin, Roger L. | en_US |
dc.date.accessioned | 2015-05-04T20:36:30Z | |
dc.date.available | 2016-07-05T17:27:59Z | en |
dc.date.issued | 2015-05 | en_US |
dc.identifier.citation | Uhlmann, Wendy R.; Peñaherrera, Maria S. ; Robinson, Wendy P.; Milunsky, Jeff M.; Nicholson, Jane M.; Albin, Roger L. (2015). "Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology." American Journal of Medical Genetics Part A 167(5): 1152-1160. | en_US |
dc.identifier.issn | 1552-4825 | en_US |
dc.identifier.issn | 1552-4833 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/111167 | |
dc.publisher | Wiley Periodicals, Inc. | en_US |
dc.subject.other | homozygotes | en_US |
dc.subject.other | homozygosity | en_US |
dc.subject.other | reduced penetrance alleles | en_US |
dc.subject.other | intermediate alleles | en_US |
dc.subject.other | compound heterozygote | en_US |
dc.subject.other | biallelic Huntington disease | en_US |
dc.subject.other | biallelic mutations | en_US |
dc.subject.other | Huntington disease (HD) | en_US |
dc.subject.other | uniparental disomy (UPD) | en_US |
dc.subject.other | compound heterozygosity | en_US |
dc.title | Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/111167/1/ajmga37009.pdf | |
dc.identifier.doi | 10.1002/ajmg.a.37009 | en_US |
dc.identifier.source | American Journal of Medical Genetics Part A | en_US |
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dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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