Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene K. SuzukiJürgen HenkeShigenori Ito Original investigation Pages: 393 - 395
Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis Deborah StoneY. NingL. Biesecker Original investigation Pages: 396 - 402
A new mechanism in blue cone monochromatism A.-S. Ladekjær-MikkelsenT. RosenbergA. L. Jørgensen Original investigation Pages: 403 - 408
Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation B. SchmuckerWolfgang G. BallhausenRudolf A. Pfeiffer Original investigation Pages: 409 - 414
Identification of the nucleotide substitution that generates the fourth polymorphic site in human deoxyribonuclease I (DNase I) Reiko IidaToshihiro YasudaK. Kishi Original investigation Pages: 415 - 418
A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion M. MilàSergi Castellví-BelXavier Estivill Original investigation Pages: 419 - 421
Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy P. VicartJean-Marie DupretDenise Paulin Original investigation Pages: 422 - 429
Polymorphisms in the human apolipoprotein-J/clusterin gene: ethnic variation and distribution in Alzheimer’s disease Benjamin TyckoL. FengR. Mayeux Original investigation Pages: 430 - 436
Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease Pavlos NeophytouRolandos ConstantinidesC. Constantinou Deltas Original investigation Pages: 437 - 442
Physical linkage and orientation of the human complement C8α and C8β genes on chromosome 1p32 P. L. PlatteborzeMichael J. HobartJ. M. Sodetz Original investigation Pages: 443 - 446
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism Luigi BiscegliaMaria Julia CalongeVirginia Nunes Original investigation Pages: 447 - 451
A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema H. OnoHiroshi KawaguchiHiroshi Nakajima Original investigation Pages: 452 - 453
A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome Angela F. DaviesMark G. OlavesenJ. Ragoussis Original investigation Pages: 454 - 459
YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome M. NadalM. MilàX. Estivill Original investigation Pages: 460 - 466
Untangling genetic influences on smoking, body mass index and longevity: a multivariate study of 2464 Danish twins followed for 28 years A. M. HerskindMatthew McGueJames W. Vaupel Original investigation Pages: 467 - 475
Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene M. J. KotzeRochelle ThiartArmand V. Peeters Original investigation Pages: 476 - 478
Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations K. SteynY. P. GoldbergD. R. Van der Westhuyzen Original investigation Pages: 479 - 484
Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis Jutta KöhlerBarbara RupiliusM. C. Koch Original investigation Pages: 485 - 490
Linkage of type I diabetes to 15q26 (IDDM3) in the Danish population Mahdi ZamaniFlemming PociotJ.-J. Cassiman Original investigation Pages: 491 - 496
The gene encoding the p60 subunit of chromatin assembly factor I (CAF1P60) maps to human chromosome 21q22.2, a region associated with some of the major features of Down syndrome Nicholas KatsanisE. M. C. Fisher Rapid communication Pages: 497 - 499
Genetic fine mapping of the gene for recessive Stargardt disease C. B. HoyngF. PoppelaarsF. P. M. Cremers Rapid communication Pages: 500 - 504
Molecular mapping of a Yq deletion in a patient with normal stature R. Rousseaux-PrévostJean-Marc RigotJean Rousseaux Rapid communication Pages: 505 - 507
Precise localization of the human gene encoding cell adhesion kinase β (CAKβ/PYK2) to chromosome 8 at p21.1 by fluorescence in situ hybridization J. InazawaHiroko SasakiTerukatsu Sasaki Rapid communication Pages: 508 - 510