Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review Martina GuttenbachWolfgang EngelM. Schmid Review article Pages: 1 - 21
Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA–) individuals that result in differing biochemical and metabolic phenotypes R. HirschhornW. BorkowskyT. Jenkins Original investigation Pages: 22 - 29
Genetic variations at the T cell receptor γ locus in circulating peripheral blood mononuclear cells of clinically categorised leprosy patients Geetanjali SachdevaGurvinder KaurR. Bamezai Original investigation Pages: 30 - 34
Search for the optimal fetal cell antibody: results of immunophenotyping studies using flow cytometry Yun-Ling ZhengDong Kai ZhenD. W. Bianchi Original investigation Pages: 35 - 42
Association of polymorphism at COL3A and CTLA4 loci on chromosome 2q31-33 with the clinical phenotype and in-vitro CMI status in healthy and leprosy subjects: a preliminary study Gurvinder KaurGeetanjali SachdevaR. Bamezai Original investigation Pages: 43 - 50
Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysis F. PetryA. Izzet BerkelMichael Loos Original investigation Pages: 51 - 56
Molecular basis of the apolipoprotein H (β2-glycoprotein I) protein polymorphism Dharambir K. SangheraTorsten KristensenM. I. Kamboh Original investigation Pages: 57 - 62
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families Gunnel LundinJin-Sung LeeM. Anvret Original investigation Pages: 63 - 66
Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2 H. Kehrer-SawatzkiMartin UdartGünter Assum Original investigation Pages: 67 - 74
Genetic fine localization of the β-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease B. CormandMagda MontfortD. Grinberg Original investigation Pages: 75 - 79
Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance T. LautealaNina Horelli-KuitunenPertti Aula Original investigation Pages: 80 - 83
The G4 gene is duplicated in 44% of human immunoglobulin heavy chain constant region haplotypes Alfredo BruscoFernanda CinqueA. O. Carbonara Original investigation Pages: 84 - 89
Identification of novel ‘expressed sequence tags’ within the FHIT gene locus in human chromosome region 3p14.2 Andreas LuxWalter BardenheuerJ. Schütte Original investigation Pages: 90 - 95
Discriminating between allelic and interlocus differences among human immunoglobulin VH4 sequences by analyzing single spermatozoa Xiangfeng CuiH. Li Original investigation Pages: 96 - 100
A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia M. J. KotzeJ. Nico P. de VilliersFrederick J. Raal Original investigation Pages: 101 - 103
An unusual combined insertion/deletion polymorphism in intron 10 of the human complement C6 gene Barbara A. FernieM. J. Hobart Original investigation Pages: 104 - 108
Regional distribution of β-thalassemia mutations in India I. C. VermaR. SaxenaPawan K. Jain Original investigation Pages: 109 - 113
cDNAs with long CAG trinucleotide repeats from human brain Russell L. MargolisMeena R. AbrahamChristopher A. Ross Original investigation Pages: 114 - 122
Mutation and haplotype analyses of the Werner’s syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population Takehisa MatsumotoOsamu ImamuraMakoto Goto Original investigation Pages: 123 - 130
Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families R. S. RamesarSoraya BardienAlan Bryer Original investigation Pages: 131 - 137
Analysis of the variation in chromosome size among diverse human populations by bivariate flow karyotyping Heather MeffordG. van den EnghB. J. Trask Original investigation Pages: 138 - 144
Microsatellite polymorphism in the human heme oxygenase-1 gene promoter and its application in association studies with Alzheimer and Parkinson disease Teiko KimparaA. TakedaShigeki Shibahara Rapid communication Pages: 145 - 147