The phenylketonuria G272X haplotype 7 mutation in European populations Jaran ApoldHans G. EikenJadwiga Maria Jaruzelska Original Investigations Pages: 107 - 109
Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families Yukiji YamadaShunji TomatsuTadao Orii Original Investigations Pages: 110 - 114
Two new polymorphisms in introns 2 and 3 of the human porphobilinogen deaminase gene Makoto DaimonYoshihiro MoritaHideo Sasaki Original Investigations Pages: 115 - 116
A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization Denise A. S. BatistaCathy M. Tuck-MullerGail Stetten Original Investigations Pages: 117 - 121
Relation of cardiovascular risk factors to atherosclerosis in type III hyperlipoproteinemia Giso FeussnerAlbrecht WagnerReinhard Ziegler Original Investigations Pages: 122 - 126
Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome O. BartschU. KönigE. Schwinger Original Investigations Pages: 127 - 132
Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA) K. E. MorrisonR. J. DanielsK. E. Davies Original Investigations Pages: 133 - 138
Molecular analysis of G6PD variants in northern Italy: a study on the population from the Ferrara district Paolino NinfaliLuciano BaroncianiErnest Beutler Original Investigations Pages: 139 - 142
Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs V. BradováF. ŠmídK. Harzer Original Investigations Pages: 143 - 152
Spectrin αIIa variant in dominant and non-dominant spherocytosis P. BoivinC. GalandD. Dhermy Original Investigations Pages: 153 - 156
Restoration of the cholesterol metabolism in 3T3 cell lines derived from the sphingomyelinosis mouse (spm/spm) by transfer of a human chromosome 18 Akihiro KurimasaKousaku OhnoMitsuo Oshimura Original Investigations Pages: 157 - 162
Down syndrome: effects of demographic factors and prenatal diagnosis on the future livebirth prevalence Martina C. CornelAnton S. P. M. BreedLeo P. ten Kate Original Investigations Pages: 163 - 168
Loss of heterozygosity in malignant gliomas involves at least three distinct regions on chromosome 10 A. Elisabeth KarlbomC. David JamesCatharina Larsson Original Investigations Pages: 169 - 174
Exclusively paternal X chromosomes in a girl with short stature Albert A. SchinzelWendy P. RobinsonEdmond A. Werder Original Investigations Pages: 175 - 178
Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene Cordula SteglichSusanna BungeAndreas Gal Original Investigations Pages: 179 - 182
Affinity differences for vitamin D metabolites associated with the genetic isoforms of the human serum carrier protein (DBP) J. ArnaudJ. Constans Original Investigations Pages: 183 - 188
C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema Z. SiddiqueA. R. McPhadenK. Whaley Original Investigations Pages: 189 - 190
Polymorphisms of the apolipoprotein B and E genes and their relationship to plasma lipid variables in healthy Chinese men A. E. EvansW. ZhangF. Cambien Original Investigations Pages: 191 - 197
The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus Cisca WijmengaSaraT. WinokurRune R. Frants Original Investigations Pages: 198 - 203
Presence of fetal cells in maternal circulation after delivery T'sang-T'ang HsiehChia C. PaoShu-Min Kao Short Communication Pages: 204 - 205
An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a SstII polymorphism Milagros BalbínAnders GrubbMagnus Abrahamson OriginalPaper Pages: 206 - 207
Polymerase chain reaction detection of a novel human KIT (mast/stem cell growth factor receptor) gene polymorphism by single-strand conformation polymorphism analysis or by SmaI or BstNI cleavage Richard A. SpritzStuart A. Holmes OriginalPaper Pages: 208 - 209
Cytogenetic findings in crossed renal ectopia with pelvic lipomatosis Horacio Rivera Letter to the Editors Pages: 210 - 210
