Molecular basis of phenotypic variation in patients with argininemia Takako UchinoSelma E. SnydermanIchiro Matsuda Review Article Pages: 255 - 260
Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA P. M. MatthewsR. M. BrownG. Brown Original Investigation Pages: 261 - 268
Characteristic chromosomal fragility of human embryonic cells exposed in vitro to aphidicolin Daniela CaporossiPatrizia VernoleBruna Tedeschi Original Investigation Pages: 269 - 274
Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number Maris LaanKristiina Grön-VirtaAnn-Christine Syvänen Original Investigation Pages: 275 - 280
The eighth component of human complement: molecular basis of C8A (C81) polymorphism Lin ZhangChristian RittnerThomas Kaufmann Original Investigation Pages: 281 - 284
Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity Caroline GraffSteen F. UrbakClaes Wadelius Original Investigation Pages: 285 - 289
De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring Már H. TuliniusMassoud HoushmandJan Wahlström Original Investigation Pages: 290 - 294
Variation at the M235T locus of the angiotensinogen gene and essential hypertension: a population-based case-control study from Rochester, Minnesota Myriam FornageStephen T. TurnerEric Boerwinkle Original Investigation Pages: 295 - 300
Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia Jürgen GeiselGuido HolzemKurt Oette Original Investigation Pages: 301 - 304
Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes Pekka NieminenSirpa ArteIrma Thesleff Original Investigation Pages: 305 - 308
Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients Shiro IkegawaYoshimitsu FukushimaYusuke Nakamura Original Investigation Pages: 309 - 311
Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations Valeria BrancoliniLaura CremonesiMaurizio Ferrari Original Investigation Pages: 312 - 318
Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana Erasmo PereiraRaoul FerreiraPascale Benlian Original Investigation Pages: 319 - 322
RS46(DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome Jos C. F. M. DreesenJoep P. M. GeraedtsMath H. E. C. Pieters Original Investigation Pages: 323 - 329
A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy Zahra YaraghiMichael D. McLeanAlex MacKenzie Short Communication Pages: 330 - 334
Mapping of a human rRNA gene in the YAC contig surrounding the SMA candidate gene Jana HuschenbettAlexander GaschAstrid Speer Short Communication Pages: 335 - 338
Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F Lisa M. CalandroD. M. BaerG. F. Sensabaugh Short Communication Pages: 339 - 342
A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis Anna Maria BarbieriNadia SorianiPaola Carrera Short Communication Pages: 343 - 344
Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes A. JauchL. RobsonA. Smith Short Communication Pages: 345 - 349
Haplotype analysis of common transthyretin mutations Maria Rosário AlmeidaN. Aoyama-OishiMaria João Saraiva Short Communication Pages: 350 - 354
Two highly polymorphic CA repeats in the Menkes gene (ATP7A) Catherine R. BegyHerman A. DierickThomas W. Glover Short Communication Pages: 355 - 356
Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant Jan A. F. M. LuytenPaul W. WeninkLambert P. W. J. van den Heuvel Short Communication Pages: 357 - 360
Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation Conxi LázaroHelena KruyerXavier Estivill Short Communication Pages: 361 - 363
Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation Emmanuel KanavakisMaria TzetisChristos Kattamis Short Communication Pages: 364 - 366
The MUC5AC gene: RFLP analysis with the Jer58 probe P. PignyW. S. PrattN. Porchet OriginalPaper Pages: 367 - 368
(CGG) trinucleotide repeat polymorphism in the 5′ region of the HHR6B gene: the human homolog of the yeast DNA repair gene RAD6 Nicholas J. LenchJohn ThompsonPhilip A. Robinson OriginalPaper Pages: 369 - 370
Locus homogeneity for cartilage-hair hypoplasia proven? Michael Krawczak Letters to the Editors Pages: 371 - 372
Specification of the phenotype required for men with monoamine oxidase type A deficiency Johannes HebebrandBirgit Klug Letters to the Editors Pages: 372 - 376
