The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations David S. KoneckiUta Lichter-Konecki Review Article Pages: 377 - 388
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria D. S. KoneckiM. SchlotterU. Lichter-Konecki Original Investigations Pages: 389 - 393
An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1 P. Edward PurdueMichael J. LumbChristopher J. Danpure Original Investigations Pages: 394 - 396
Identification of mutations in two families with sporadic hemophilia A Christine PayntonGobinda SarkarSteve S. Sommer Original Investigations Pages: 397 - 400
Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat Michael B. PetersenJames L. WeberStylianos E. Antonarakis Original Investigations Pages: 401 - 404
Spinocerebellar ataxia: multipoint linkage analysis of genes associated with the disease locus Patricia J. WilkieLawrence J. SchutStephen S. Rich Original Investigations Pages: 405 - 408
Mechanisms of insertional mutagenesis in human genes causing genetic disease David N. CooperMichael Krawczak Original Investigations Pages: 409 - 415
Persistence of two Y chromosomes through meiotic prophase and metaphase I in an XYY man R. M. SpeedM. J. W. FaedW. Barnetson Original Investigations Pages: 416 - 420
Fragile X expression and X inactivation Doris WöhrlePeter Steinbach Original Investigations Pages: 421 - 424
The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene Steen KølvraaNiels GregersenLars Bolund Original Investigations Pages: 425 - 428
Orosomucoid (ORM 1) subtyping and formal genetics C. LuckenbachJ. KömpfH. Ritter Original Investigations Pages: 429 - 432
A polymorphic region defined by pCN2 (the 3′ nontranslated region of N-ras) maps to chromosome 9cen-p12 Tsutomu NoboriLisa Evans HexdallDennis A. Carson Original Investigations Pages: 433 - 437
Association between Rh and plasma iron binding (transferrin) Carlos Y. ValenzuelaAlfredo AvendañoZuraiya Harb Original Investigations Pages: 438 - 440
Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene Thilo DörkUlrich WulbrandBurkhard Tümmler Original Investigations Pages: 441 - 446
Cytogenetic studies in human sperm A. M. EstopK. CieplyK. Garver Original Investigations Pages: 447 - 451
Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13 Anjana Lal PettigrewFrank GreenbergDavid H. Ledbetter Original Investigations Pages: 452 - 456
Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene Jochen ReissDavid N. CooperMichael Krawczak Original Investigations Pages: 457 - 461
Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica Ernest BeutlerWanda KuhlWalter Rodríguez R. Original Investigations Pages: 462 - 464
Esterase D and retinoblastoma gene loci are tightly linked to Wilson's disease in Chinese pedigrees from Taiwan Lee-Ming ChuangTong-Yuan TaiBoniface J. Lin Original Investigations Pages: 465 - 468
DNA haplotype analysis suggests linkage disequilibrium in the human insulin receptor gene Margareta Sten-LinderMarianne OlssonSuad Efendić Original Investigations Pages: 469 - 474
Status of the search for a major genetic locus for affective disorder in the Old Order Amish Andrew J. PakstisJudith R. KiddKenneth K. Kidd Original Investigations Pages: 475 - 483
Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria Jin-Sung LeeGunnel LundinBernard Grandchamp Original Investigations Pages: 484 - 488
Labeling of the centromeric region on human chromosome 8 by in situ hybridization Heinz-Ulrich G. WeierJoe W. GrayHans-Dieter Kleine Original Investigations Pages: 489 - 494
Detection of APC region-specific signals by nonisotopic chromosomal in situ suppression (CISS)-hybridization using a microdissection library as a probe Udo TrautmannGabriele LeuteritzWolfgang G. Ballhausen Original Investigations Pages: 495 - 497
Isodicentric X chromosome in a patient with Turner syndrome — implications for localization of the X-inactivation center Anjana Lal PettigrewEdward R. B. McCabeFrederick F. B. Elder Short Communications Pages: 498 - 502
The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) locus in human fibroblasts Ann-Marie SteenSuzanne MarcusBo Lambert Short Communications Pages: 503 - 505
Exclusion of linkage between familial Mediterranean fever and the human serum amyloid A (SAA) gene cluster George H. Sack Jr.C.Conover Talbot Jr.Mordechai Pras Short Communications Pages: 506 - 508
Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13 J. F. De Rijk-van AndelC. E. Catsman-BerrevoetsB. A. Oostra Short Communications Pages: 509 - 510
Molecular analysis of cystic fibrosis in the Hungarian population Margit NemetiElaine LouieZoltan Papp Short Communications Pages: 511 - 512
Cytogenetic studies on MIC gas-exposed persons in Bhopal B. C. Das Letters to the Editors Pages: 513 - 515
The ΔF508 mutation and RFLP-linked loci in Spanish cystic fibrosis families B. PeralC. Hernández-ChicoM. Devoto Letters to the Editors Pages: 516 - 517