Sex determination and sex reversal: genotype, phenotype, dogma and semantics Ursula Mittwoch Review Article Pages: 467 - 479
Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine α1(I) 901 substitution in a type-I collagen gene Monica MottesAntonella SangalliGiuseppe Cetta Original Investigations Pages: 480 - 484
A new polymorphic site in the G6PD gene Ernest BeutlerBeryl WestwoodBrian Sipe Original Investigations Pages: 485 - 486
Assignment of the human CRABP-II gene to chromosome 1q21 by nonisotopic in situ hybridization J. T. ElderA. ÅströmJ. M. Trent Original Investigations Pages: 487 - 490
Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene P. VogtA. C. ChandleyA. Sharkey Original Investigations Pages: 491 - 496
Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7) G. MarchettiP. PatracchiniF. Bernardi Original Investigations Pages: 497 - 502
Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia Marina ColombiRita GardellaSergio Barlati Original Investigations Pages: 503 - 507
Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene Francis MunierM. Anne SpenceHans Peter Rutz Original Investigations Pages: 508 - 512
Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders B. SchmidB. C. PatonK. Harzer Original Investigations Pages: 513 - 518
A non-alphoid repetitive DNA sequence from human chromosome 21 Roman MüllenbachSteffi LutzNikolaus Blin Original Investigations Pages: 519 - 523
Reduced recombination and paternal age effect in Klinefelter syndrome Isabel Lorda-SanchezFranz BinkertAlbert A. Schinzel Original Investigations Pages: 524 - 530
A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite Ricardo FujitaGiorgio SirugoMichel Koenig Original Investigations Pages: 531 - 538
Three DNA markers for hypophosphataemic rickets Peter S. N. RoweAndrew P. ReadJeffrey L. H. O'Riordan Original Investigations Pages: 539 - 542
Population cytogenetics of aphidicolin-induced fragile sites Bruna TedeschiPatrizia VernoleBenedetto Nicoletti Original Investigations Pages: 543 - 547
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria Hubert de Verneuil1Francine BourgeoisYves Nordmann Original Investigations Pages: 548 - 552
αI/65 Hereditary elliptocytosis in Southern Italy: Evidence for an African origin E. Miraglia del GiudiceM. T. DucluzeA. Iolascon Original Investigations Pages: 553 - 556
Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6p Luis IzquierdoMary PorteousJ. Michael Connor Original Investigations Pages: 557 - 560
Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis B. TopA. G. UitterlindenR. R. Frants Original Investigations Pages: 561 - 565
The interleukin-7 receptor gene is at 5pl3 Michael LynchElizabeth BakerRay G. Goodwin Short Communications Pages: 566 - 568
Increased expression of 5q31 fragile site in a Bloom syndrome family Ariela F. FundiaNora B. GorlaIrene B. Larripa Short Communications Pages: 569 - 572
Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β-thalassaemia in the Portuguese population Paula FaustinoLeonor Osório-AlmeidaJoão Lavinha Short Communications Pages: 573 - 576
Refined regional assignment of the human tissue factor pathway inhibitor (TFPI) gene to chromosome band 2q32 by non-isotopic in situ hybridization C. P. E. Van der LogtP. M. C. KluckP. H. Reitsma Short Communications Pages: 577 - 578
PCR detection of a BclI RFLP in the G6PD gene of Caucasians P. J. WillemsL. Vits DNA Variants Pages: 579 - 579
A novel mutation in the β-protein coding region of the amyloid β-protein precursor (APP) gene Milagros BalbínMagnus AbrahamsonAnders Grubb DNA Variants Pages: 580 - 582
A single nucleotide substitution in the phosphoglycerate kinase (PGK)-1 gene occurred after the separation of PGK-1 and PGK-2 H. FujiiH. KannoS. Miwa DNA Variants Pages: 583 - 583
Two PstI polymorphisms for the urokinase-type plasminogen activator receptor gene (PLAUR) A. D. BørglumA. ByskovT. A. Kruse DNA Variants Pages: 584 - 584