Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy E. Kondo-IidaKayoko SaitoTatsushi Toda Original investigation Pages: 427 - 432
Microdeletion 22q11 in complex cardiovascular malformations Yasmin MehraeinC.-F. WippermannH. Rehder Original investigation Pages: 433 - 442
Mitochondrial DNA variation and the origin of the Europeans D. ComasF. CalafellJ. Bertranpetit Original investigation Pages: 443 - 449
Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet N. MatsumotoHirofumi OhashiNorio Niikawa Original investigation Pages: 450 - 453
A de novo recombination in the ABO blood group gene and evidence for the occurrence of recombination products K. SuzukiMisa IwataTokiko Miyazaki Original investigation Pages: 454 - 461
Molecular analysis of the ß-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region R. VervoortNeil R. M. BuistW. Lissens Original investigation Pages: 462 - 468
A 25-kb deletion in the 5′ region of the cytochrome b558 heavy chain gene (CYBB) in a patient with X-linked chronic granulomatous disease N. N. FaizunnessaT. TsuchiyaMichio Nakamura Original investigation Pages: 469 - 473
Segregation of sex chromosomes into sperm nuclei in a man with 47,XXY Klinefelter’s karyotype: a FISH analysis M. GuttenbachH. W. MichelmannM. Schmid Original investigation Pages: 474 - 477
Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes A. De PaepeLieve NuytinckJean-Pierre Fryns Original investigation Pages: 478 - 483
Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis Gábor ZsurkaJenö OrmosP. Venetianer Original investigation Pages: 484 - 487
Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles Antti LevoJukka Partanen Original investigation Pages: 488 - 497
β-Thalassemia and βA globin gene haplotypes in Mexican mestizos Alma R. Villalobos-ArámbulaRocío BustosB. Ibarra Original investigation Pages: 498 - 500
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) E. A. M. JanssenStephan KempPieter A. Bolhuis Original investigation Pages: 501 - 505
Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children Robert J. PomponioKaren J. NorrgardB. Wolf Original investigation Pages: 506 - 512
Cystic fibrosis mutations and associated haplotypes in Bulgaria – a comparative population genetic study Dora AngelichevaFrancesc CalafellJ. Galeva Original investigation Pages: 513 - 520
Molecular investigation of the parental origin of a de novo unbalanced translocation 13/18 T. EggermannHartmut EngelsGesa Schwanitz Original investigation Pages: 521 - 522
Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation G. StevensMichèle RamsayTrefor Jenkins Original investigation Pages: 523 - 527
The involvement of Alu repeats in recombination events at the α-globin gene cluster: characterization of two α°-thalassaemia deletion breakpoints K. L. HarteveldMonique LosekootLuigi F. Bernini Original investigation Pages: 528 - 534
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy Isam NaomMariella D’AlessandroF. Muntoni Original investigation Pages: 535 - 540
Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A Séverine BontronV. SteimleB. Mach Original investigation Pages: 541 - 546
The human gene encoding FKBP-rapamycin associated protein (FRAP) maps to chromosomal band 1p36.2 N. J. LenchRobert MacadamAlexander F. Markham Rapid communication Pages: 547 - 549
nm23-H4, a new member of the family of human nm23/nucleoside diphosphate kinase genes localised on chromosome 16p13 Laurence MilonMarie-Françoise Rousseau-MerckM.-L. Lacombe Rapid communication Pages: 550 - 557