1. Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs

   • Frauke Mekus
   • Ulrike Laabs
   • Burkhard Tümmler

   Original Investigation Pages: 1 - 11

2. Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1

   • Meena Upadhyaya
   • Elisa Majounie
   • David N. Cooper

   Original Investigation Pages: 12 - 17

3. Surfactant protein B polymorphism and respiratory distress syndrome in premature twins

   • Riitta Marttila
   • Ritva Haataja
   • Mikko Hallman

   Original Investigation Pages: 18 - 23

4. A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28–29

   • Silvia Modamio-Høybjør
   • Miguel Moreno-Pelayo
   • Felipe Moreno

   Original Investigation Pages: 24 - 28

5. Mitochondrial DNA polymorphisms associated with longevity in a Finnish population

   • Anna-Kaisa Niemi
   • Antti Hervonen
   • Kari Majamaa

   Original Investigation Pages: 29 - 33

6. Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility

   • Rebecca A. Speckman
   • Jil A. Wright Daw
   • Anne M. Bowcock

   Original Investigation Pages: 34 - 41

7. Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions

   • Kathleen Freson
   • Chantal Thys
   • Chris Van Geet

   Original Investigation Pages: 42 - 49

8. Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates

   • Katja Eckl
   • Howard P. Stevens
   • Hans Hennies

   Original Investigation Pages: 50 - 56

9. Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11

   • Lindsay Bridgland
   • Tim K. Footz
   • Heather E. McDermid

   Original Investigation Pages: 57 - 61

10. Common variations in noncoding regions of the human natriuretic peptide receptor A gene have quantitative effects

    • Joshua W. Knowles
    • Laurie M. Erickson
    • Nobuyo Maeda

    Original Investigation Pages: 62 - 70

11. Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter

    • Jens J. Hansen
    • Peter Bross
    • Niels Gregersen

    Original Investigation Pages: 71 - 77

12. Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata

    • Shuya Shirahama
    • Akira Miyahara
    • Shiro Ikegawa

    Original Investigation Pages: 78 - 83

13. Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia

    • Akihiko Mabuchi
    • Noriyo Manabe
    • Shiro Ikegawa

    Original Investigation Pages: 84 - 90

14. Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism

    • Keiko Arai
    • Yoshiko Nakagomi
    • Tamotsu Shibasaki

    Original Investigation Pages: 91 - 97

15. Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis

    • Kim Ericson
    • Bengt Fadeel
    • Jan-Inge Henter

    Short Report Pages: 98 - 99

16. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

    • Tohru Yorifuji
    • Masahiko Kawai
    • Tatsutoshi Nakahata

    Erratum Pages: 100 - 100

17. Ian N.M. Day (ed) Molecular genetic epidemiology: a laboratory perspective

    • Andreas Ziegler
    • Bertram Müller-Myhsok

    Book Review Pages: 101 - 102

18. January 2003

    Human Gene Mutations 11 December 2002 Pages: 103 - 103

19. January 2003

    Human Gene Mutations 11 December 2002 Pages: 104 - 104