Physical mapping and genomic structure of the Lowe syndrome gene OCRL1 R. L. NussbaumBonnie M. OrrisonA. Craig Chinault Original investigation Pages: 145 - 150
Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP Masahiko YamamotoTakeshi YasudaG. Sobue Original investigation Pages: 151 - 154
Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia Jae Jin ChaeYoung Bae ParkC. C. Lee Original investigation Pages: 155 - 163
Intervention of somatic mutational events in vivo by a germline defect at the adenine phosphoribosyltransferase locus M. HakodaNaoyuki KamataniSadao Kashiwazaki Original investigation Pages: 164 - 170
The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients Atsushi NishiyoriM. YoshinoMasataka Mori Original investigation Pages: 171 - 176
Genetic markers for glutamic acid decarboxylase do not predict insulin-dependent diabetes mellitus in pairs of affected siblings Tina RambrandFlemming PociotThe Danish Study Group of Diabetes in Childhood Original investigation Pages: 177 - 185
Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene B. Edman AhlbomMuhammad YaqoobC. Wadelius Original investigation Pages: 186 - 190
Analysis of helicase gene mutations in Japanese Werner’s syndrome patients Makaoto GotoOsamu ImamuraY. Furuichi Original investigation Pages: 191 - 193
Analysis of the allelic diversity of a (CA)n repeat polymorphism among α1-antitrypsin gene products from northern Portugal J. RochaDalila PintoÁlvaro Aguiar Original investigation Pages: 194 - 198
A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria M. DaimonEishirou GojyouHideo Sasaki Original investigation Pages: 199 - 201
Polyclonal origin of medullary carcinoma of the thyroid in multiple endocrine neoplasia type 2 A. M. FerrarisRosa MangeriniFurio Pacini Original investigation Pages: 202 - 205
Proportion and pattern of dystrophin gene deletions in North Indian Duchenne and Becker muscular dystrophy patients Vinita SinghShirish SinhaB. Mittal Original investigation Pages: 206 - 208
Somatic mosaicism for deletion of the entire NF1 gene identified by FISH Bai-Lin WuRichard G. BolesB. R. Korf Original investigation Pages: 209 - 213
Chromosomal abnormalities in sperm from testicular cancer patients before and after chemotherapy Renée H. MartinScott ErnstNancy Summers Original investigation Pages: 214 - 218
Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria N. E. BeckI. P. M. TomlinsonWalter F. Bodmer Original investigation Pages: 219 - 224
Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1–14.1 L. KrolsJean-Jacques MartinC. Van Broeckhoven Original investigation Pages: 225 - 232
Human hepatocyte nuclear factor-4 (hHNF-4) gene maps to 20q12–q13.1 between PLCG1 and D20S17 Alexandros ArgyrokastritisSmaragda KamakariN. K. Moschonas Original investigation Pages: 233 - 236
The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions H. Kehrer-SawatzkiJürgen HäusslerGünter Assum Original investigation Pages: 237 - 247
A high-frequency polymorphism of NADH-cytochrome b5 reductase in African-Americans Mary M. JenkinsJ. T. Prchal Original investigation Pages: 248 - 250
Mutation detection in FGFR2 craniosynostosis syndromes G. E. HollwayGraeme K. SuthersJohn C. Mulley Original investigation Pages: 251 - 255
Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31–p22.13 region A. ToutainNathalie RonceClaude Moraine Original investigation Pages: 256 - 261
Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2 Haiming ChenStylianos E. Antonarakis Original investigation Pages: 262 - 265
Determination of the origin of single nucleated cells in maternal circulation by means of random PCR and a set of length polymorphisms F. von EggelingSusanne MichelUwe Claussen Original investigation Pages: 266 - 270
Identification of novel Asian Indian and Japanese mutations causing β-thalassaemia in the Egyptian population N. El-HashemiteMary PetrouJoy D. A. Delhanty Original investigation Pages: 271 - 274
Two novel PAH gene mutations detected in Italian phenylketonuric patients Alessandra ArgiolasPaolo BoscoV. Romano Original investigation Pages: 275 - 278
Chromosomal localization of the type-I 15-PGDH gene to 4q34–q35 Franck PichaudRégis Delage-MourrouxMarie-Françoise Rousseau-Merck Original investigation Pages: 279 - 281
Transmission distortion of the mutant alleles in spinocerebellar ataxia Olaf RiessJörg T. EpplenL. Schöls Rapid communication Pages: 282 - 284
Localization of genes encoding two human one-domain members of the AAA family: PSMC5 (the thyroid hormone receptor-interacting protein, TRIP1) and PSMC3 (the Tat-binding protein, TBP1) Jacqueline HoyleKim H. TanE. M. C. Fisher Rapid communication Pages: 285 - 288
Noonan syndrome with cardiac left-sided obstructive lesions Maria Cristina DigilioB. MarinoBruno Dallapiccola Letter to the editors Pages: 289 - 289
Further clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner stigmata T. OgataTomonobu HasegawaNobutake Matsuo Letter to the editors Pages: 290 - 290