Determination of the mutations responsible for the lesch-nyhan syndrome in 17 subjects
dc.contributor.author | Tarle, Susan A. | en_US |
dc.contributor.author | Davidson, Beverly L. | en_US |
dc.contributor.author | Wu, Veda C. | en_US |
dc.contributor.author | Zidar, Frank J. | en_US |
dc.contributor.author | Seegmiller, J. Edwin | en_US |
dc.contributor.author | Kelley, William N. | en_US |
dc.contributor.author | Palella, Thomas D. | en_US |
dc.date.accessioned | 2006-04-10T14:42:34Z | |
dc.date.available | 2006-04-10T14:42:34Z | |
dc.date.issued | 1991-06 | en_US |
dc.identifier.citation | Tarle, Susan A., Davidson, Beverly L., Wu, Veda C., Zidar, Frank J., Seegmiller, J. Edwin, Kelley, William N., Palella, Thomas D. (1991/06)."Determination of the mutations responsible for the lesch-nyhan syndrome in 17 subjects." Genomics 10(2): 499-501. <http://hdl.handle.net/2027.42/29310> | en_US |
dc.identifier.uri | http://www.sciencedirect.com/science/article/B6WG1-4DXK9Y3-41/2/f763dc7601316935816de6ab306e6cff | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/29310 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=2071157&dopt=citation | en_US |
dc.description.abstract | Hypoxanthine -- guanine phosphoribosyltransferase (HPRT) is a purine salvage enzyme that catalyzes the conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate. Previous studies of mutant HPRT proteins analyzed at the molecular level have shown a significant heterogeneity. This investigation further verifies this heterogeneity and identifies insertions, deletions, and point mutations. The direct sequencing of the polymerase chain reaction-amplified product of reverse-transcribed HPRT mRNA enabled the rapid identification of the mutations found in 17 previously uncharacterized cell lines derived from patients with the Lesch-Nyhan syndrome. | en_US |
dc.format.extent | 260642 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 | Determination of the mutations responsible for the lesch-nyhan syndrome in 17 subjects | 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 Multipurpose Arthritis Center, University of Michigan, Ann Arbor, Michigan 48109, USA; Department of Internal Medicine, the Rackham Arthritis Research Unit, University of Michigan, Ann Arbor, Michigan 48109, USA. | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, the Rackham Arthritis Research Unit, University of Michigan, Ann Arbor, Michigan 48109, USA; Department of Internal Medicine, the University of Michigan Multipurpose Arthritis Center, University of Michigan, Ann Arbor, Michigan 48109, USA. | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, the University of Michigan Multipurpose Arthritis Center, University of Michigan, Ann Arbor, Michigan 48109, USA; Department of Internal Medicine, the Rackham Arthritis Research Unit, University of Michigan, Ann Arbor, Michigan 48109, USA. | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, the University of Michigan Multipurpose Arthritis Center, University of Michigan, Ann Arbor, Michigan 48109, USA; Department of Internal Medicine, the Rackham Arthritis Research Unit, University of Michigan, Ann Arbor, Michigan 48109, USA. | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, the University of Michigan Multipurpose Arthritis Center, University of Michigan, Ann Arbor, Michigan 48109, USA; Department of Internal Medicine, the Rackham Arthritis Research Unit, University of Michigan, Ann Arbor, Michigan 48109, USA. | en_US |
dc.contributor.affiliationother | Institute for Research on Aging, University of California at San Diego, La Jolla, California 92093, USA | en_US |
dc.contributor.affiliationother | University of Pennsylvania Medical School, Philadelphia, Pennsylvania 19104, USA | en_US |
dc.identifier.pmid | 2071157 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/29310/1/0000374.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1016/0888-7543(91)90341-B | en_US |
dc.identifier.source | Genomics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.