Background. @entity36828 has already been nominated as @entity36828 which may cause @entity191 , though there are still discrepancies among these results. Recently, Gulsuner et al.'s study found that @entity36828 @entity69385 is responsible for hereditary essential @entity400 and homozygotes of this allele develop @entity191 by examining a six-generation family segregating essential @entity400 and essential @entity400 coexisting with @entity191 . We performed this study to validate the condition of @entity36828 gene in Chinese @entity191 @entity1 , especially essential @entity400 . Methods. We directly sequenced all eight exons, exon-intron boundaries, and part of the introns in 101 familial essential @entity400 @entity1 , 105 @entity191 @entity1 , and 100 healthy controls. Results. No exonic variant was identified, while one exon-intron boundary variant ( @entity69386 ) and one intron variant ( @entity69387 ) were detected, both with no clinical significance and uncertain function. There was no difference in allele, genotype, and haplotype between groups. Conclusions. @entity36828 exonic variant might be rare among Chinese @entity191 and essential @entity400 @entity1 with family history, and @entity36828 may not be the cause of @entity191 and essential @entity400 in China.

Mutation Analysis of XXXX Gene in Chinese Familial Essential Tremor and @entity191 .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity69386 :: ('rs2241028', 'SNP') :: ['rs2241028'] @entity69387 :: ('rs2241027', 'SNP') :: ['rs2241027'] @entity69385 :: ('p|SUB|G|399|S', 'ProteinMutation') :: ['p.G399S'] @entity191 :: ('MESH:D010300', 'Disease') :: ["Parkinson's disease", "familial Parkinson's disease", "familial essential tremor and familial Parkinson's disease"] @entity400 :: ('MESH:D014202', 'Disease') :: ['tremor'] @entity36828 :: ('27429', 'Gene') :: ['HTRA2', 'PARK13']
@entity36828 :: (27429,Gene) :: ['HTRA2']
