Parkin variants in North American Parkinson's disease: cases and controls. Export

@article{citeulike:5917001, abstract = {We report on an evaluation of coding variants within the parkin gene to assess their frequency in a North American clinical series of 313 Parkinson's disease (PD) cases and 192 unrelated controls. We hypothesized that the carrier frequency of parkin coding mutations, exon deletions, or duplications may be greater in PD cases. However, point mutations and exonic deletions/duplications, reported previously as pathogenic in homozygous or compound heterozygous individuals, occurred in both cases and controls with similar frequencies (3.8\% in cases, 3.1\% in controls). Furthermore, only stratified subanalyses detected any genetic association between the V380L common coding polymorphism and PD. We discuss the implication of parkin mutations for Parkinson's disease from this population perspective.}, author = {Lincoln, Sarah J. and Maraganore, Demetrius M. and Lesnick, Timothy G. and Bounds, Rebecca and de Andrade, Mariza and Bower, James H. and Hardy, John A. and Farrer, Matthew J.}, citeulike-article-id = {5917001}, citeulike-linkout-0 = {http://dx.doi.org/10.1002/mds.10601}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/14639672}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=14639672}, doi = {10.1002/mds.10601}, issn = {0885-3185}, journal = {Movement disorders : official journal of the Movement Disorder Society}, keywords = {genetics, parkin, parkinsons}, month = {November}, number = {11}, pages = {1306--1311}, posted-at = {2009-10-09 18:28:45}, priority = {2}, title = {Parkin variants in North American Parkinson's disease: cases and controls.}, url = {http://dx.doi.org/10.1002/mds.10601}, volume = {18}, year = {2003} }

TY - JOUR ID - citeulike:5917001 L3 - citeulike-article-id:5917001 N2 - We report on an evaluation of coding variants within the parkin gene to assess their frequency in a North American clinical series of 313 Parkinson's disease (PD) cases and 192 unrelated controls. We hypothesized that the carrier frequency of parkin coding mutations, exon deletions, or duplications may be greater in PD cases. However, point mutations and exonic deletions/duplications, reported previously as pathogenic in homozygous or compound heterozygous individuals, occurred in both cases and controls with similar frequencies (3.8% in cases, 3.1% in controls). Furthermore, only stratified subanalyses detected any genetic association between the V380L common coding polymorphism and PD. We discuss the implication of parkin mutations for Parkinson's disease from this population perspective. IS - 11 JF - Movement disorders : official journal of the Movement Disorder Society SN - 0885-3185 EP - 1311 TI - Parkin variants in North American Parkinson's disease: cases and controls. VL - 18 SP - 1306 KW - genetics KW - parkin KW - parkinsons AU - Lincoln, Sarah AU - Maraganore, Demetrius AU - Lesnick, Timothy AU - Bounds, Rebecca AU - de Andrade, Mariza AU - Bower, James AU - Hardy, John AU - Farrer, Matthew PY - 2003/11// UR - http://dx.doi.org/10.1002/mds.10601 ER -