Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase Helge RootweltJanice ChouEli Anne Kvittingen Original Investigations Pages: 615 - 619
Multiplex PCR screening detects small p53 deletions and insertions in human ovarian cancer cell lines Ingo B. RunnebaumXiao-Wen TongRolf Kreienberg Original Investigations Pages: 620 - 624
A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region Kimiko Yamakawa-KobayashiTsutomu KobayashiHideo Hamaguchi Original Investigations Pages: 625 - 628
Unbiased transmission of mutant alleles at the human retinoblastoma locus Stephanie B. SeminaraThaddeus P. Dryja Original Investigations Pages: 629 - 634
Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes Dana GlennTerri GelbartErnest Beutler Original Investigations Pages: 635 - 638
Linkage analysis of the genetic determinants of high density lipoprotein concentrations and composition: evidence for involvement of the apolipoprotein A-II and cholesteryl ester transfer protein loci Xiangdong BuCraig H. WardenAldons J. Lusis Original Investigations Pages: 639 - 648
Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma Hans-Christian HenniesDirk ZehenderAndré Reis Original Investigations Pages: 649 - 654
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia Kenji NanaoKazuko Okamura-IkedaKiyoshi Hayasaka Original Investigations Pages: 655 - 658
Identification of three novel mutations (457 TAT→G, D192G, Q685X) in the Slovenian CF patients Marie-Pierre AudrézetNina Canki-KlainClaude Férec Original Investigations Pages: 659 - 662
Delineation of marker chromosomes by reverse chromosome painting using only a small number of DOP-PCR amplified microdissected chromosomes Renate ViersbachGesa SchwanitzMarkus M. Nöthen Original Investigations Pages: 663 - 667
PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus Anna-Elina LehesjokiCarlo Alberto TassinariAlbert de la Chapelle Original Investigations Pages: 668 - 674
Affected sib-pair analysis of the GLUT1 glucose transporter gene locus in non-insulin-dependent diabetes mellitus (NIDDM): evidence for no linkage Marco G. BaroniJuan C. AlcoladoDavid J. Galton Original Investigations Pages: 675 - 680
A base substitution at IVS-19 3′-end splice junction causes exon 20 skipping in proα2(I) collagen mRNA and produces mild osteogenesis imperfecta M. MottesA. SangalliP. F. Pignatti Original Investigations Pages: 681 - 687
Genetic mapping of 14 short tandem repeat polymorphisms on human chromosome 22 Homero P. ValladaJohn E. CollinsDavid A. Collier Original Investigations Pages: 688 - 690
A unique origin for Sicilian (δβ)∘-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis Gabriella EspositoMichela GrossoFrancesco Salvatore Short Communications Pages: 691 - 693
Polymorphisms in the 3′ untranslated region of the IκB/MAD-3 (NFKBI) gene located on chromosome 14 Damjan GlavačMetka Ravnik-GlavačMichael Dean Short Communications Pages: 694 - 696
Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4 Klaus ZerresGabi MücherSabine Rudnik-Schöneborn Short Communications Pages: 697 - 698
Anticipation in hereditary dentatorubral-pallidoluysian atrophy Akira SanoNoriko YamauchiIkuko Kondo Short Communications Pages: 699 - 702
Assignment of the human 8.5 H gene to chromosome 5, region 5q35 S. DiriongD. Sabéran-DjoneidiV. C. Nguyen Short Communications Pages: 703 - 706
Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families Christof Meyer-KleineMichael OttoManuela C. Koch Short Communications Pages: 707 - 710
Molecular defects in erythropoietic protoporphyria with terminal liver failure Xiaoye Schneider-YinBeat W. SchäferElisabeth I. Minder Short Communications Pages: 711 - 713
Assignment of the gene encoding the human gonadotropin-releasing hormone receptor to 4q13.2–13.3 by fluorescence in situ hybridization N. MorrisonR. E. SellarJ. M. Connor Short Communications Pages: 714 - 715
Assignment of the gene encoding the human thyrotropin-releasing hormone receptor to 8q23 by fluorescence in situ hybridization N. MorrisonS. M. DuthieJ. M. Connor Short Communications Pages: 716 - 718
(G)n-Mononucleotide polymorphism in the human D4 dopamine receptor (DRD4) gene A. PetronisK. O'HaraH. H. M. Van Tol OriginalPaper Pages: 719 - 719
TaqI dimorphic site in a human pancreatic phospholipase A2 (PLA2) gene localized on chromosome 12 P. M. FrossardP. E. NewmanG. G. Lestringant OriginalPaper Pages: 720 - 720
Investigation of the polymorphic AvaII site by a PCR-based assay at the human CD18 gene locus Shinya MastuuraFumio Kishi OriginalPaper Pages: 721 - 721
A NlaIII polymorphism within the human factor VII gene Shu Huey ChaingAnders WallmarkKatherine A. High OriginalPaper Pages: 722 - 723
BglII identifies a frequent biallelic DNA polymorphism of the human RT6 gene Friedrich Koch-NolteSurjit SinghHeinz-Günter Thiele DNA Variants Pages: 724 - 724
No maternal age relationship for polyploidy Dorothy WarburtonJennie KlineAnn Kinney Letter to the Editors Pages: 725 - 726
