A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency Donna G. SculleyPaul A. DawsonRoss B. Gordon Review Article Pages: 195 - 207
Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency Takashi KuwaharaToshiyuki FukaoTakashi Hashimoto Original Investigations Pages: 208 - 210
DNA analyses of XX and XX-hypospadiac males Hironao NumabeShigeo NagafuchiYasuo Nakagome Original Investigations Pages: 211 - 214
The gene encoding human transmembrane secretory component (locus PIGR) is linked to D1S58 on chromosome 1 P. KrajčiT. Gedde-Dahl JrP. Brandtzaeg Original Investigations Pages: 215 - 219
The apolipoprotein (a) gene: a transcribed hypervariable locus controlling plasma lipoprotein (a) concentration H. G. KraftS. KöchlG. Utermann Original Investigations Pages: 220 - 230
Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia) Elisabetta MüllerMaria Luisa MostacciuoloGian Antonio Danieli Original Investigations Pages: 231 - 234
Preparation of a rat brain histidine decarboxylase (HDC) cDNA probe by PCR and assignment of the human HDC gene to chromosome 15 Gilles BruneauCong Van NguyenJean Thibault Original Investigations Pages: 235 - 238
Absence of Turner stigmata in a 46,XYp-female Ulrich MüllerVincent G. H. J. KirkelsJacques M. J. Scheres Original Investigations Pages: 239 - 242
Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome W. BergerA. MeindlH. -H. Ropers Original Investigations Pages: 243 - 246
A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient G. MosnaS. FattoreM. Piantanida Original Investigations Pages: 247 - 250
Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (Myoclonic epilepsy with ragged red fibers) encephalomyopathy P. LertritA. S. NoerS. Marzuki Original Investigations Pages: 251 - 254
Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa Monika HornPeter HumphriesJane Farrar Original Investigations Pages: 255 - 257
Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism William S. OettingRichard A. King Original Investigations Pages: 258 - 262
Linkage to Xq28 in a family with nonspecific X-linked mental retardation Ann-Marie NordströmMaila PenttinenHarriet von Koskull Original Investigations Pages: 263 - 266
The spectrum of CFTR mutations in south-west German cystic fibrosis patients M. LindnerA. WolfA. E. Kulozik Original Investigations Pages: 267 - 269
Isolation of DNTR polymorphisms from yeast artificial chromosomes encompassing X chromosomal loci PGK1 and DXS56 Manuel B. GraeberAnthony P. MonacoUlrich Müller Original Investigations Pages: 270 - 274
Identification of CpG islands around the DXS178 locus in the region of the X-linked agammaglobulinaemia gene locus in Xq22 Marie-Anne J. O'ReillyLesley A. AltermanChristine Kinnon Original Investigations Pages: 275 - 278
A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients Thilo DörkNanette KälinBurkhard Tümmler Original Investigations Pages: 279 - 284
Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II) Paul L. CrottyChester B. Whitley Original Investigations Pages: 285 - 288
A critical analysis of data presented in eight studies favouring X-linkage of bipolar illness with special emphasis on formal genetic aspects Johannes HebebrandKlaus Hennighausen Original Investigations Pages: 289 - 293
Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms Hiroshi KawameYoriyasu HasegawaKihei Maekawa Short Communications Pages: 294 - 296
Characterization and mapping of the 5′ portion of von Willebrand factor pseudogene P. PatracchiniG. MarchettiF. Bernardi Short Communications Pages: 297 - 298
The gene for bone morphogenetic protein 2A (BMP2A) is localized to human chromosome 20pl2 by radioactive and nonradioactive in situ hybridization V. V. N. Gopal RaoChristiane LöfflerIngo Hansmann Short Communications Pages: 299 - 302
A novel CFTR mutation, 4035delA, detected by non-radioactive SSCP analysis Jochen ReissUlrike LenzHans-Georg Posselt Short Communications Pages: 303 - 304
A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy Yukihiko MashimaRichard G. WeleberGeorge Inana Short Communications Pages: 305 - 307
Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis Enikö K. PivnickStephen WachtelColin E. Bishop Short Communication Pages: 308 - 310
Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS) Sibylle JakubiczkaEdmond A. WerderPeter Wieacker Short Communication Pages: 311 - 312
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13 Bärbel DittrichWendy P. RobinsonBernhard Horsthemke Short Communication Pages: 313 - 315
A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome David RobinsonMargaret LamontPeter Phelps Short Communications Pages: 316 - 318
The potassium channel gene HK1 maps to human chromosome 11p14.1, close to the FSHB gene Manfred GesslerAndrew GrapeOlaf Pongs Short Communications Pages: 319 - 321
BglII RFLP in DXS498 between the pigment gene repeat unit, RCP and GCP L. VitsP. J. Willems OriginalPaper Pages: 322 - 322
Investigation of the polymorphic ScaI site by a PCR-based assay at the human atrial natriuretic peptides (hANP) gene locus Rajendranath RamasawmyNavaratnam KoteaRajagopal Krishnamoorthy OriginalPaper Pages: 323 - 324
Detection of a new polymorphism of the human prothrombin (F2) gene by combination of PASA and mutated primer-mediated PCR-RFLP Hiroyuki IwahanaNoriko MizusawaMitsuo Itakura OriginalPaper Pages: 325 - 326
PCR detection of two RFLPs in exon I of the α-L-iduronidase (IDUA) gene H. S. ScottT. LitjensC. P. Morris OriginalPaper Pages: 327 - 327
Deletion of the 5′-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease Pieter A. BolhuisHennie Bikker Letter to the Editors Pages: 328 - 329
Sperm chromosome complements from two human reciprocal translocation heterozygotes Elizabeth L. SpriggsRenee H. MartinMaj Hulten Erratum Pages: 330 - 330