Insulator: from chromatin domain boundary to gene regulation Hui-Chun ZhanDe-Pei LiuChih-Chuan Liang Review Article Pages: 471 - 478
Genomic structure of karyopherin α2 (KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome Sylvia DörrMike SchlickerIngo Hansmann Original Investigation Pages: 479 - 486
Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene Song HanDavid N. CooperMeena Upadhyaya Original Investigation Pages: 487 - 497
A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect Dawn L. ThiseltonChristiane AlexanderMarcela Votruba Original Investigation Pages: 498 - 502
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations Clare E. BeesleyCathy A. MeaneyBryan G. Winchester Original Investigation Pages: 503 - 511
Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene Zsolt UrbánJun ZhangMargaret R. Wallace Original Investigation Pages: 512 - 520
Association of the mitochondrial DNA 5178 A/C polymorphism with serum lipid levels in the Japanese population Akatsuki KokazeMamoru IshikawaYutaka Takashima Original Investigation Pages: 521 - 525
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency Xue YangYoko AokiYoichi Suzuki Original Investigation Pages: 526 - 534
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome Nikki LiburdManju GhoshThomas B. Friedman Original Investigation Pages: 535 - 541
Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution Marianne HammarsundWilliam WilsonOlle Sangfelt Original Investigation Pages: 542 - 550
Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity Giedre GrigelionieneJacqueline SchoumansJan P. Dumanski Original Investigation Pages: 551 - 558
A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon Osamu SakamotoToshihiro OhuraKazuie Iinuma Original Investigation Pages: 559 - 563
Genetic case-control association studies – correcting for multiple testing Dale R. Nyholt Food for Thought Pages: 564 - 565
Correcting for multiple testing in genetic association studies: the legend lives on Michael KrawczakStefan BoehringerJörg T. Epplen Food for Thought Pages: 566 - 567
