Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate Tadao ArinamiMidori AsanoHideo Hamaguchi Original Investigations Pages: 431 - 436
Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells Maria SchröderDoris SchnabelKonrad Sandhoff Original Investigations Pages: 437 - 440
Molecular and cytogenetic analyses of autism in Taiwan Shuan-Yow LiYung-Cheng Joseph ChenYi-Chun Wang Original Investigations Pages: 441 - 445
Molecular analysis of factor VII deficiency in Italy: a frequent mutation (FVII Lazio) in a repeated intronic region F. BernardiP. PatracchiniG. Marchetti Original Investigations Pages: 446 - 450
An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A Koichi HonkeTakahiko KobayashiAkira Makita Original Investigations Pages: 451 - 456
Supernumerary marker chromosomes in peripheral blood cells of hepatitis B virus chronic carriers Daniela SimonW. Thomas LondonBarbara B. Knowles Original Investigations Pages: 457 - 460
Human malformations similar to those in the mouse mutation disorganization (Ds) Nathaniel H. RobinOlusina O. AdewaleMaja Bućan Original Investigations Pages: 461 - 464
Parental origin of triploidy in human fetuses: evidence for genomic imprinting Deborah E. McFaddenLinda C. KwongSylvie Langlois Original Investigations Pages: 465 - 469
Frequency of glucose-6-phosphate dehydrogenase (G6PD) mutations in Chinese, Filipinos, and Laotians from Hawaii Y. Edward HsiaFaye MiyakawaErnest Beutler Original Investigations Pages: 470 - 476
Diverse polymorphism within a short coding region of the human aldehyde dehydrogenase-5 (ALDH5) gene David ShermanVibha DavéAkira Yoshida Original Investigations Pages: 477 - 480
Paternal duplication of chromosome 5q11.2–5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies E. J. Breslau-SideriusJ. Th. WijnenP. Meera Khan Original Investigations Pages: 481 - 485
Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms Susan HollánH. FujiiMarianna Inselt-Kovács Original Investigations Pages: 486 - 490
Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families P. SteinbachD. WöhrleM. Zank Original Investigations Pages: 491 - 498
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75→Cys mutation in the procollagen type II gene (COL2A1) Charlene J. WilliamsEileen L. ConsidineDarwin J. Prockop Original Investigations Pages: 499 - 505
Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency José Manuel SoriaJordi FontcubertaNúria Sala Short Communications Pages: 506 - 508
A rare reciprocal translocation (12;21) segregating for nine generations Sari KoskinenTuija OnnelainenJuha Kere Short Communications Pages: 509 - 512
Gaucher disease (Norrbottnian type III): probable founders identified by genealogical and molecular studies Niklas DahlPer-Olof HillborgAgneta Olofsson Short Communications Pages: 513 - 515
Assignment of the human aggrecan gene AGC1 to 15q25→q26.2 by in situ hybridization Walter JustChristine KlettWalther Vogel Short Communications Pages: 516 - 518
A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa Masamichi SagaYukihiko MashimaNobuyoshi Shimizu Short Communications Pages: 519 - 521
Centromeric association of a microchromosome in a Turner syndrome patient with a pseudodicentric Y H. RiveraM. G. DomínguezR. Fragoso Clinical Case Report Pages: 522 - 524
A myeloblastin/proteinase-3 cDNA clone identifies a BglII and a PvuII restriction fragment length polymorphism J. SchwallerT. ChenA. Tobler DNA Variants Pages: 525 - 525
