1. Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy

   • E. Kondo-Iida
   • Kayoko Saito
   • Tatsushi Toda

   Original investigation Pages: 427 - 432

2. Microdeletion 22q11 in complex cardiovascular malformations

   • Yasmin Mehraein
   • C.-F. Wippermann
   • H. Rehder

   Original investigation Pages: 433 - 442

3. Mitochondrial DNA variation and the origin of the Europeans

   • D. Comas
   • F. Calafell
   • J. Bertranpetit

   Original investigation Pages: 443 - 449

4. Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet

   • N. Matsumoto
   • Hirofumi Ohashi
   • Norio Niikawa

   Original investigation Pages: 450 - 453

5. A de novo recombination in the ABO blood group gene and evidence for the occurrence of recombination products

   • K. Suzuki
   • Misa Iwata
   • Tokiko Miyazaki

   Original investigation Pages: 454 - 461

6. Molecular analysis of the ß-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region

   • R. Vervoort
   • Neil R. M. Buist
   • W. Lissens

   Original investigation Pages: 462 - 468

7. 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. Faizunnessa
   • T. Tsuchiya
   • Michio Nakamura

   Original investigation Pages: 469 - 473

8. Segregation of sex chromosomes into sperm nuclei in a man with 47,XXY Klinefelter’s karyotype: a FISH analysis

   • M. Guttenbach
   • H. W. Michelmann
   • M. Schmid

   Original investigation Pages: 474 - 477

9. Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes

   • A. De Paepe
   • Lieve Nuytinck
   • Jean-Pierre Fryns

   Original investigation Pages: 478 - 483

10. Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis

    • Gábor Zsurka
    • Jenö Ormos
    • P. Venetianer

    Original investigation Pages: 484 - 487

11. Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles

    • Antti Levo
    • Jukka Partanen

    Original investigation Pages: 488 - 497

12. β-Thalassemia and β^A globin gene haplotypes in Mexican mestizos

    • Alma R. Villalobos-Arámbula
    • Rocío Bustos
    • B. Ibarra

    Original investigation Pages: 498 - 500

13. Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

    • E. A. M. Janssen
    • Stephan Kemp
    • Pieter A. Bolhuis

    Original investigation Pages: 501 - 505

14. 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. Pomponio
    • Karen J. Norrgard
    • B. Wolf

    Original investigation Pages: 506 - 512

15. Cystic fibrosis mutations and associated haplotypes in Bulgaria – a comparative population genetic study

    • Dora Angelicheva
    • Francesc Calafell
    • J. Galeva

    Original investigation Pages: 513 - 520

16. Molecular investigation of the parental origin of a de novo unbalanced translocation 13/18

    • T. Eggermann
    • Hartmut Engels
    • Gesa Schwanitz

    Original investigation Pages: 521 - 522

17. Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation

    • G. Stevens
    • Michèle Ramsay
    • Trefor Jenkins

    Original investigation Pages: 523 - 527

18. The involvement of Alu repeats in recombination events at the α-globin gene cluster: characterization of two α°-thalassaemia deletion breakpoints

    • K. L. Harteveld
    • Monique Losekoot
    • Luigi F. Bernini

    Original investigation Pages: 528 - 534

19. The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy

    • Isam Naom
    • Mariella D’Alessandro
    • F. Muntoni

    Original investigation Pages: 535 - 540

20. Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A

    • Séverine Bontron
    • V. Steimle
    • B. Mach

    Original investigation Pages: 541 - 546

21. The human gene encoding FKBP-rapamycin associated protein (FRAP) maps to chromosomal band 1p36.2

    • N. J. Lench
    • Robert Macadam
    • Alexander F. Markham

    Rapid communication Pages: 547 - 549

22. nm23-H4, a new member of the family of human nm23/nucleoside diphosphate kinase genes localised on chromosome 16p13

    • Laurence Milon
    • Marie-Françoise Rousseau-Merck
    • M.-L. Lacombe

    Rapid communication Pages: 550 - 557