A novel case of compound heterozygosity with “Normandy”/type I von Willebrand disease (vWD). Direct demonstration of the segregation of one allele with a defective expression at the mRNA level causing type I vWD Virginie SiguretJean-Maurice LavergneGeneviève Piétu Original Investigations Pages: 95 - 102
Linkage analysis of autosomal dominant atrio ventricular canal defects: exclusion of chromosome 21 Anthony J. CousineauRonald M. LauerVal C. Sheffield Original Investigations Pages: 103 - 108
Intracellular processing and maturation of mutant gene products in hereditary β-galactosidase deficiency (β-galactosidosis) Akihiro OshimaKunihiro YoshidaYoshiyuki Suzuki Original Investigations Pages: 109 - 114
WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin Agneta NordenskjöldEitan FriedmanMaria Anvret Original Investigations Pages: 115 - 120
Maternal cell contamination in amniotic fluid samples as a consequence of the sampling technique Silke NußDagmar BrebaumCaspar Grond-Ginsbach Original Investigations Pages: 121 - 124
Assignment of human satellite 1 DNA as revealed by fluorescent in situ hybridization with oligonucleotides Ignacio TagarroJoop WiegantAntonia M. Fernández-Peralta Original Investigations Pages: 125 - 128
Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes Toshinobu MatsuuraRyuuji HoshideIchiro Matsuda Original Investigations Pages: 129 - 134
Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion of chromosome 1 Renée H. MartinJudy E. ChernosEvelyn Ko Original Investigations Pages: 135 - 138
G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype Maria Domenica CappelliniMaurizio SampietroGemino Fiorelli Original Investigations Pages: 139 - 142
Diagnosis of fragile X syndrome by direct mutation analysis Marja-Leena VäisänenMarketta KähkönenJaakko Leisti Original Investigations Pages: 143 - 147
Glycophorin variants and Plasmodium falciparum: protective effect of the Dantu phenotype in vitro S. P. FieldE. HempelmannA. F. Fleming Original Investigations Pages: 148 - 150
Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies E. C. M. MarimanA. A. W. M. Gabreëls-FestenF. J. M. Gabreëls Original Investigations Pages: 151 - 156
394delTT: a Nordic cystic fibrosis mutation Marianne SchwartzMaria AnvretLisbeth Tranebjærg Original Investigations Pages: 157 - 161
Cystic fibrosis in a low-incidence population: two major mutations in Finland Juha KereXavier EstivillAlbert de la Chapelle Original Investigations Pages: 162 - 166
On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT) Hsien-Chin LinLorne T. KirbyJuergen K. V. Reichardt Original Investigations Pages: 167 - 169
Detection of carriers of deletions in the dystrophin gene in Bulgarian DMD-BMD families Juliana BronzovaAlbena TodorovaLuba Kalaydjieva Original Investigations Pages: 170 - 174
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line Jun TohyamaEiji NanbaKousaku Ohno Original Investigations Pages: 175 - 181
Sickle cell anemia, sickle cell β-thalassemia, and thalassemia major in Albania: characterization of mutations Enis BoletiniMartina SvobodovaTitus H. J. Huisman Original Investigations Pages: 182 - 187
Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations Olivier CohenChristine CansPierre Jalbert Original Investigations Pages: 188 - 194
Autosomal dominant cyclic hematopoiesis: exclusion of linkage to the major hematopoietic regulatory gene cluster on chromosome 5 Susan E. PalmerDavid C. DaleKaren Stephens Original Investigations Pages: 195 - 197
Mapping of the human gene encoding the mutual signal-transducing subunit (β-chain) of granulocyte-macrophage colony-stimulating factor (GM-CSF), interleukin-3 (IL-3), and interleukin-5 (IL-5) receptor complexes to chromosome 22q13.1 S. TakaiK. YamadaT. Taniyama Short Communications Pages: 198 - 200
Assignment of the human indoleamine 2,3-dioxygenase gene to chromosome 8 using the polymerase chain reaction Shigenobu ToneAkihiko KadoyaRyo Kido Short Communications Pages: 201 - 203
A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the Swedish population Anna WedellXu ChunHolger Luthman Short Communications Pages: 204 - 206
Precise localization on chromosome 12 of the ATF-1 gene by fluorescence in situ hybridization C. DesmazeJ. ZucmanA. Aurias Short Communications Pages: 207 - 208
Human aldehyde dehydrogenase: chromosomal assignment of the gene for the isozyme that metabolizes γ-aminobutyraldehyde John D. McPhersonJohn J. WasmuthRegina Pietruszko Short Communications Pages: 211 - 212
Definitive assignment of the growth hormone-releasing factor gene to 20q11.2 A. PezzoloG. GimelliO. Zuffardi Short Communications Pages: 213 - 214
Confirmation of the localization of the human recombination activating gene 1 (RAG1) to chromosome 11p13 Klaus SchwarzHorst HameisterClaus R. Bartram Short Communications Pages: 215 - 217
Novel RFLPs and microsatellite repeats increase informativity at four loci mapping to Xq22-q25 Robert NewtonPhilip StanierGudrun E. Moore Short Communications Pages: 218 - 221
HaeIII polymorphism in intron 1 of the human p53 gene T. ItoT. SeyamaM. Akiyama OriginalPaper Pages: 222 - 222
Polymorphism of pentanucleotide repeats in the 5′ flanking region of glutathione S-transferase (GST) π gene Shoji HaradaTakako NakamuraShogo Misawa OriginalPaper Pages: 223 - 224
Polymorphism in the human β2 adrenergic receptor gene detected by Restriction Endonuclease digestion with Fnu4HI Christopher K. McQuittyCharles W. EmalaMichael A. Levine OriginalPaper Pages: 225 - 225
D3S1229 and D3S1246 correspond to the same dinucleotide repeat polymorphism Manfred SchürmannJutta LeuteltAndreas Gal Letters to the Editors Pages: 226 - 227
Hypomelanosis of Ito in a girl with plexus papilloma and transloction (X;17) Virginia P. SybertRoberta A. Pagon Letters to the Editors Pages: 227 - 227
No amyloid precursor protein 708 mutation in 50 Swedish Alzheimer's disease patients Lena LiliusLars Lannfelt Letters to the Editors Pages: 227 - 228
