A novel point mutation in an acceptor splice site of intron 32 (IVS32 A–12→G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb M. OkuboAsako HorinishiToshio Murase Original investigation Pages: 1 - 5
Replication timing of the various FMR1 alleles detected by FISH: inferences regarding their transcriptional status Josepha YeshayaRuth ShalgiL. Avivi Original investigation Pages: 6 - 14
Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility Maurizio GenuardiAlessandra VielG. Neri Original investigation Pages: 15 - 20
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21–p22.1 and identification of novel mutations in Stargardt’s disease Igor NasonkinMichelle IllingB. H. F. Weber Original investigation Pages: 21 - 26
Polymorphism of the HLA class II loci in Siberian populations Blazenka GrahovacR. I. SukernikJan Klein Original investigation Pages: 27 - 43
Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia T. P. LerenKari S. BakkenKåre Berg Original investigation Pages: 44 - 49
A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms Stefano RegisMirella FilocamoR. Gatti Original investigation Pages: 50 - 53
Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome Katrien StormIngrid HandigP. J. Willems Original investigation Pages: 54 - 56
Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene N. ZhongKrystyna E. WisniewskiW. Ted Brown Original investigation Pages: 57 - 62
Cloning and tissue expression of cDNAs from chromosome 5q21–22 which is frequently deleted in advanced lung cancer Kiyonobu UenoToru KumagaiS. Hosoe Original investigation Pages: 63 - 68
Low β-glucuronidase enzyme activity and mutations in the human β-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote R. VervoortRichard GitzelmannW. Lissens Original investigation Pages: 69 - 78
Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method M. VotrubaAnthony T. MooreShomi S. Bhattacharya Original investigation Pages: 79 - 86
Absence of human placental lactogen and placental growth hormone (HGH-V) during pregnancy: PCR analysis of the deletion K. RygaardAgnès RevolH. A. Barrera-Saldaña Original investigation Pages: 87 - 92
Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34 W. H. RaskindTamara BolinThomas D. Bird Original investigation Pages: 93 - 97
Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies Bruno DelobelRatib DjlelatiY. Rumpler Original investigation Pages: 98 - 102
Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3–q25.2 and mutation analysis Karin G. Michels-RautenstraussChristian Y. MardinB. W. Rautenstrauss Original investigation Pages: 103 - 106
Subfamilies and nearest-neighbour dendrogram for the LTRs of human endogenous retroviruses HERV-K mapped on human chromosome 19: physical neighbourhood does not correlate with identity level I. LavrentievaP. KhilE. D. Sverdlov Original investigation Pages: 107 - 116
Infertile couples with Robertsonian translocations: preimplantation genetic analysis of embryos reveals chaotic cleavage divisions C. M. ConnJoyce C. HarperJoy D. A. Delhanty Original investigation Pages: 117 - 123
Gene symbol: PKD1 Disease: Polycystic kidney disease C. DaniellsM. MaheshwarD. Ravine Human Gene Mutations Pages: 127 - 127
