Trisomy 7 in non-neoplastic tubular epithelial cells of the kidney Sakari KnuutilaMarcelo L. LarramendyFelix Mitelman Original Investigation Pages: 149 - 156
Genetic homogeneity of cartilage-hair hypoplasia Tuija SulisaloIneke van der BurgtIlkka Kaitila Original Investigation Pages: 157 - 160
Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis John A. CrollaJohn F. HarveyNick R. Dennis Original Investigation Pages: 161 - 170
The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme Per M. KnappskogHans Geir EikenJaran Apold Original Investigation Pages: 171 - 173
Two mutant alleles of the insulin receptor gene in a family with a genetic form of insulin resistance: a 10 base pair deletion in exon 1 and a mutation substituting serine for asparagine-462 Alessandro CamaMaria de la Luz SierraSimeon I. Taylor Original Investigation Pages: 174 - 182
Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity Miguel Angel García-PérezPablo SanjurjoVicente Rubio Original Investigation Pages: 183 - 186
Germline mutations of the RET proto-oncogene in eight Japanese patients with multiple endocrine neoplasia type 2A (MEN2A) Syuya Takiguchi-ShirahamaKumiko KoyamaYusuke Nakamura Original Investigation Pages: 187 - 190
Ornithine transcarbamylase deficiency: new sites with increased probability of mutation Elisabeth Oppliger LeibundgutSabina Liechti-GallatiBendicht Wermuth Original Investigation Pages: 191 - 196
Localization of the gene for a novel human adenylyl cyclase (ADCY7) to chromosome 16 Kaisa HellevuoRebecca BerryBoris Tabakoff Original Investigation Pages: 197 - 200
A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme Sabine KafertUwe HeinischVolkmar Gieselmann Original Investigation Pages: 201 - 204
Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected T. CasalsL. BassasX. Estivill Original Investigation Pages: 205 - 211
Factor XKetchikan: a variant molecule in which Gly replaces a Gla residue at position 14 in the light chain Deog Joong KimArthur R. ThompsonHarold Lee James Original Investigation Pages: 212 - 214
A Gly238Ser substitution in the α2 chain of type I collagen results in osteogenesis imperfecta type III Nicola J. RoseKatrina MackayRaymond Dalgleish Original Investigation Pages: 215 - 218
A recombination event excludes the ROM1 locus from the Best's vitelliform macular dystrophy region Heidi StöhrBernhard H. F. Weber Short Communication Pages: 219 - 222
The gene coding for the B cell surface protein CD19 is localized on human chromosome 16p11 Paula StapletonZbynek KozmikMeinrad Busslinger Short Communication Pages: 223 - 225
Common CFTR mutations are not likely to predispose to chronic bronchitis in Northern Germany Andreas ArtlichArnulf BoysenEberhard Schwinger Short Communication Pages: 226 - 228
Regional localization of th human EGF-like growth factor CRIPTO gene (TDGF-1) to chromosome 3p21 Salvatore SacconeAntonella RapisardaGiuliano Della Valle Short Communication Pages: 229 - 230
Confidence intervals for predicted age of onset, given the size of (CAG) n repeat, in Huntington's disease G. LucotteJ. C. TurpinS. Hazout Short Communication Pages: 231 - 232
Assignment of a human autoimmune antigen, p80-coilin gene to chromosome 17q21-q23 and of its possible pseudogene to chromosome 14 Jun KusudaReiko TanumaKatsuyuki Hashimoto Short Communication Pages: 233 - 234
De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene A. BarcelóM. GirósX. Estivill Short Communication Pages: 235 - 237
Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family Hanna SegevAyeleth ReshefEran Leitersdorf Clinical Case Report Pages: 238 - 240
A novel RsaI polymorphism within intron 39 of the neurofibromatosis type 1 (NF1) gene David RodenhiserKen Hovland OriginalPaper Pages: 241 - 242
Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavages Shunji TomatsuSeiji FukudaTadao Orii OriginalPaper Pages: 243 - 244
Detection of a HindIII restriction fragment length polymorphism in the human phenol sulfotransferase (STP) locus R. D. HenkelL. V. GalindoT. P. Dooley OriginalPaper Pages: 245 - 246
Detection of a Tsp509I polymorphism in the 3′ UTR of the human tyrosinase related protein-1 (TYRP) gene Scott C. WildenbergRichard A. KingWilliam S. Oetting OriginalPaper Pages: 247 - 247
