A 50-year perspective of a family with chromosome-14-linked Alzheimer’s disease L. GustafsonArne BrunMagnus Abrahamson Original investigation Pages: 253 - 257
Identification of CpG islands hypermethylated in human lung cancer by the arbitrarily primed-PCR method Takashi KohnoMasashi KawanishiJ. Yokota Original investigation Pages: 258 - 264
Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome C. A. SatlerMark R. VeselyA. H. Beggs Original investigation Pages: 265 - 272
Linkage of the apo CIII microsatellite with isolated low high-density lipoprotein cholesterol Cecilia M. DevlinValerie L. PrengerMichael Miller Original investigation Pages: 273 - 281
Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1 Jean-Louis BlouinGeneviève Duriaux SaïlS. E. Antonarakis Original investigation Pages: 282 - 288
Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein Aliana EgeoMichela MazzoccoP. Scartezzini Original investigation Pages: 289 - 293
Novel mutations of the peripheral myelin protein22 gene in two pedigrees with Dejerine-Sottas disease Tohru IkegamiHiroyuki IkedaK. Hayasaka Original investiagation Pages: 294 - 298
A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated β-myosin heavy chain genes Brigitte JeschkeKerstin UhlH.-P. Vosberg Original investigation Pages: 299 - 304
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia typeII Regina HühnHeike StoermerG. Scherer Original investigation Pages: 305 - 313
Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis Hans Christian HenniesMichael RaghunathAndré Reis Original investigation Pages: 314 - 318
X chromosome-inactivation patterns in patients with Rett syndrome A. C. Victorino KrepischiFernando KokP. Guimarães Otto Original investigation Pages: 319 - 321
Exclusion of five subunits of cGMP phosphodiesterase in Leber’s congenital amaurosis I. PerraultSophie ChâtelinJosseline Kaplan Original investigation Pages: 322 - 326
Familial mitochondrial DNA depletion in liver: haplotype analysis of candidate genes Johannes N. SpelbrinkMieke J. M. Van GalenCoby Van den Bogert Original investigation Pages: 327 - 331
Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany P. JézéquelM. BargainI. Dorval Original investigation Pages: 332 - 333
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test Sylvie TufferySylvie ChambertM. Claustres Original investigation Pages: 334 - 342
Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands Joanne Traeger-SynodinosNicholas MavroidisNicholas Matsaniotis Original investigation Pages: 343 - 347
Breast cancer risk assessment: use of complete pedigree information and the effect of misspecified ages at diagnosis of affected relatives Silke SchmidtH. BecherJenny Chang-Claude Original investigation Pages: 348 - 356
Variable number tandem repeat polymorphism of the mucin genes located in the complex on 11p15.5 Lynne E. VinallAlexander S. HillD. M. Swallow Original investigation Pages: 357 - 366
Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene Anja KlosePeter Nicholas RobinsonH. Peters Original investigation Pages: 367 - 371
Relationship of the angiotensin-converting enzyme gene polymorphism to glucose intolerance, insulin resistance, and hypertension in NIDDM Xiao-Hong HuangVappu RantalaihoT. Lehtimäki Original investigation Pages: 372 - 378