Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A→G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gene Massoud HoushmandNils-Göran LarssonElisabeth Holme Original Investigation Pages: 269 - 273
Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families Mendel TuchmanRobert J. PlanteVicente Rubio Original Investigation Pages: 274 - 276
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy Maria L. MostacciuoloMarta MiorinCarlo P. Trevisan Original Investigation Pages: 277 - 279
Fanconi anaemia complementation groups in Germany and The Netherlands Hans JoenjeEuropean Fanconi Anaemia Research group Original Investigation Pages: 280 - 282
Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population Rowena Sarah JamesPatricia Ann Jacobs Original investigation Pages: 283 - 286
Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV Allan M. LundFlemming SkovbyMarianne Schwartz Original Investigation Pages: 287 - 290
Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency Ingrid HandigErna DamsPatrick J. Willems Original Investigation Pages: 291 - 293
Angelman syndrome in an inbred family Joke BeutenRaoul C. M. HennekamPatrick J. Willems Original Investigation Pages: 294 - 298
Deletions of the long arm of chromosome 10 in progression of follicular thyroid tumors Jan ZedeniusGöran WallinCatharina Larsson Original Investigation Pages: 299 - 303
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel Mohammad A. RafiPaola LuziDavid A. Wenger Original Investigation Pages: 304 - 308
Geographic differences in the allele frequencies of the human Y-linked tetranucleotide polymorphism DYS19 Fabrício R. SantosTudevdagva GerelsaikhanSérgio D. J. Pena Original Investigation Pages: 309 - 313
Cystic fibrosis in Argentina: The frequency of the ΔF508 mutation M. C. LunaP. A. GranadosO. H. Pivetta Original Investigation Pages: 314 - 314
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family Stefania ZappataFrancesco TizianoChristina Brahe Original Investigation Pages: 315 - 318
The heritability of human longevity: A population-based study of 2872 Danish twin pairs born 1870–1900 Anne Maria HerskindMatthew McGueJames W. Vaupel Original Investigation Pages: 319 - 323
Substitution of glycine-661 by serine in the α1(I) and α2(1) chains of type I collagen results in different clinical and biochemical phenotypes Lieve NuytinckRaymond DalgleishAnne De Paepe Original Investigation Pages: 324 - 329
X-chromosome methylation ratios as indicators of chromosomal activity: Evidence of intraindividual divergencies among tissues of different embryonal origin J. AzofeifaM. CremerR. Waldherr Original Investigation Pages: 330 - 333
Validation of the determination of ΔF508 mutations of the cystic fibrosis gene in over 11000 mouthwashes Hendrik G. de VriesJ. Margriet ColléeLeo P. ten Kate Original Investigation Pages: 334 - 336
A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family Erik A. SistermansSistermans de WijsFred H. Menko Original Investigation Pages: 337 - 339
Characterisation of a human serine hydroxymethyltransferase pseudogene and its localisation to 1p32.3–33 Paula C. ByrneJanet M. ShipleyKeith Snell Original Investigation Pages: 340 - 344
The gene for X-linked hypophosphataemic rickets maps to a 200–300 kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE) P. S. N. RoweJ. N. GouldingK. E. Davies Original Investigation Pages: 345 - 352
A deletion of five nucleotides in the LICAM gene in a Japanese family with X-linked hydrocephalus Tomoki TakechiJun TohyamaShigeru Matsukura Original investigation Pages: 353 - 356
A new base substitution in the 5′ regulatory region of the humanAγ globin gene is linked with the βs gene George P. PatrinosAphrodite Loutradi-AnagnostouManoussos N. Papadakis Original investigation Pages: 357 - 358
Chromosomal localization of the human and mouse histidine decarboxylase genes by in situ hybridization. Exclusion of the HDC gene from the Prader-Willi syndrome region Perrine MalzacMarie-Geneviève MatteiGilles Bruneau Original investigation Pages: 359 - 361
No mutations found byRET mutation scanning in sporadic and hereditary neuroblastoma Robert M. W. HofstraRein P. StulpNiels Clausen Original investigation Pages: 362 - 364
Objective analysis of centromere separation Gábor MéhesAndrás TárnokKároly Méhes Original Investigation Pages: 365 - 366
Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France Bernard FromentyAbdellah MansouriDominique Pessayre Original Investigation Pages: 367 - 368
Interleukin-1 receptor antagonist allele (ILIRN*2) associated with nephropathy in diabetes mellitus Alexandra I. F. BlakemoreAngela CoxGordon W. Duff Original Investigation Pages: 369 - 374
An analysis of Xq deletions Paola MaraschioRossella TuplerLuciano Tiepolo Original Investigation Pages: 375 - 381
A novel mechanism for the origin of supernumerary marker chromosomes Paola MaraschioRossella TuplerMarco Fraccaro Original Investigation Pages: 382 - 386
Localization of the gene encoding the human L-glutamate transporter (GLT-1) to 11p11.2–p13 by fluorescence in situ hybridization Setsuo TakaiHideshi KawakamiShigenobu Nakamura Original Investigation Pages: 387 - 389
High resolution multicolor fluorescence in situ hybridization using cyanine and fluorescein dyes: Rapid chromosome identification by directly fluorescently labeled alphoid DNA probes Yuri B. YurovIlia V. SolovievRobert Lewis Original Investigation Pages: 390 - 398
Integration of four genes, a pseudogene, thirty-one STSs, and a highly polymorphic STRP into the 7–10 Mb YAC contig of 5q34–q35 Markus KostrzewaDeborah L. GradyUlrich Müller Rapid Communication Pages: 399 - 403
Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization Wen-Lin KuoRochelle HirschhornKurt Hirschhorn Rapid Communication Pages: 404 - 406
A novel missense mutation in the thyroid hormone receptor β gene in a kindred with resistance to thyroid hormone Hiromichi KijimaMitsumasa KuboTakao Koike DNA Variants Pages: 407 - 408
