Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183) Maarten P. MulderMartina WilkeCarel Meijers Original Investigation Pages: 133 - 141
The mutational demography of protein C deficiency Michael KrawczakPieter H. ReitsmaDavid N. Cooper Original Investigation Pages: 142 - 146
An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia Ulf EkströmMagnus AbrahamsonPeter Nilsson-Ehle Original Investigation Pages: 147 - 150
Alcohol and aldehyde dehydrogenase genotypes and drinking behavior of Chinese living in Shanghai Taro MuramatsuWang Zu-ChengHiroaki Kono Original Investigation Pages: 151 - 154
Isolation and chromosomal localization of a human ATP-regulated potassium channel Santosh N. KrishnanTrushna DesaiGabriel G. Haddad Original Investigation Pages: 155 - 160
Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria William E. SchreiberFenton FongAzim Jamani Original Investigation Pages: 161 - 166
X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes Jorge AzofeifaThomas VoitMarion Cremer Original Investigation Pages: 167 - 176
Screening for naturally occurring apolipoprotein A-I variants: apo A-I(ΔK107) is associated with low HDL-cholesterol levels in men but not in women Jerzy-Roch NoferArnold von EckardsteinGerd Assmann Original Investigation Pages: 177 - 182
Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH Dorothy TrumpMichael P. WhyteRajesh V. Thakker Original Investigation Pages: 183 - 187
Distribution of human endogenous retrovirus HERV-K genomes in humans and different primates Sabine SteinhuberManfred BrackWerner Vogetseder Original Investigation Pages: 188 - 192
Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel Eitan KeremYoram M. KalmanBatsheva Kerem Original Investigation Pages: 193 - 197
Analysis of steroid 21-hydroxylase gene mutations in the Spanish population Begoña EzquietaAntonio OliverPilar G. Gancedo Original Investigation Pages: 198 - 204
Amplifying dinucleotide microsatellite loci from bone and tooth samples of up to 5000 years of age: more inconsistency than usefulness M. D. RamosC. LaluezaX. Estivill Original Investigation Pages: 205 - 212
A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23 Patrizia AmatiJean-Claude ChomelDominique Bonneau Short Communication Pages: 213 - 215
An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q José M. MillánFrancisco MartínezCarmen Nájera Short Communication Pages: 216 - 218
Rh — plasma iron binding capacity association. New evidence Carlos Y. ValenzuelaMaría L. BravoJüan C. Alarcón Short Communication Pages: 219 - 220
Localisation of the human gene encoding the cytoskeletal protein talin to chromosome 9p Andrew P. GilmoreVasken OhanianDavid R. Critchley Short Communication Pages: 221 - 224
The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence A. BarrientosJ. CasademontV. Nunes Short Communication Pages: 225 - 228
Somatic stability in chorionic villi samples and other Huntington fetal tissues J. BenitezM. RobledoB. Brambati Short Communication Pages: 229 - 232
An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient Stefano RegisRomeo CarrozzoRosanna Gatti Short Communication Pages: 233 - 235
Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene Corinne MimaultFabrice CaillouxOdile Boespflug-Tanguy BriefCommunication Pages: 236 - 236
Three new dinucleotide repeat polymorphisms on human chromosome 9: D9S970, D9S971, and D9S972 Barry S. KimmelPierre MiniouAlban J. Linnenbach OriginalPaper Pages: 237 - 238
Restriction polymorphisms of the ceruloplasmin gene on chromosome 3 Muriel BostMary BerkawPhilippe Arnaud OriginalPaper Pages: 239 - 240
Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia Trond P. LerenKari SolbergLeiv Ose OriginalPaper Pages: 241 - 242
A novel polymorphism (6376 G/T) in intron 7 of the human protein C gene José Manuel SoriaMarta MorellNúria Sala OriginalPaper Pages: 243 - 244
A human SHC-related sequence maps to chromosome 17, the SHC gene maps to chromosome 1 Isik G. YulugSean E. EganElizabeth M. C. Fisher OriginalPaper Pages: 245 - 248
Two novel missense mutations in the cystathionine β-synthase gene in homocystinuric patients Leo A. J. KluijtmansHenk J. BlomLambert P. W. J. van den Heuvel OriginalPaper Pages: 249 - 250
Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome Maria Cristina DigilioBruno MarinoBruno Dallapiccola Letter to the Editors Pages: 251 - 253
A 163-bp deletion at the C-terminus of the schwannomin gene associated with variable phenotypes of neurofibromatosis type 2 Lan KluweStefan M. PulstVictor-F. Mautner Erratum Pages: 254 - 254
