1. The human olfactory subgenome: from sequence to structure and evolution

   • Tania Fuchs
   • Gustavo Glusman
   • Yitzhak Pilpel

   Original Investigation Pages: 1 - 13

2. A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria

   • Hung-Kun Chao
   • Kwang-Jen Hsiao
   • Tsung-Sheng Su

   Original Investigation Pages: 14 - 19

3. Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the α1-antitrypsin polymorphism

   • Susana Seixas
   • Oscar Garcia
   • Jorge Rocha

   Original Investigation Pages: 20 - 30

4. Transmission ratio distortion in offspring of heterozygous female carriers of Robertsonian translocations

   • Fernando de Villena
   • Carmen Sapienza

   Original Investigation Pages: 31 - 36

5. Human type I hair keratin pseudogene ϕ hHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence

   • Hermelita Winter
   • Lutz Langbein
   • Jürgen Schweizer

   Original Investigation Pages: 37 - 42

6. A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

   • Violaine Bourdon
   • Christophe Philippe
   • Philippe Jonveaux

   Original Investigation Pages: 43 - 50

7. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

   • M. Bassi
   • Arthur Bergen
   • M. Schiaffino

   Original Investigation Pages: 51 - 54

8. The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility

   • L. Quintana-Murci
   • C. Krausz
   • K. McElreavey

   Original Investigation Pages: 55 - 58

9. AFLP fingerprinting of the human genome

   • Michal Prochazka
   • Ken Walder
   • James Xia

   Original Investigation Pages: 59 - 65

10. Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome

    • René Santer
    • Martina Kinner
    • Jürgen Schaub

    Original Investigation Pages: 66 - 71

11. The Frequency of Inherited Disorders Database

    • Layla Al-Jader
    • Peter Harper
    • David Cooper

    Short Report Pages: 72 - 74

12. Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

    • Jessica Tyson
    • Lisbeth Tranebjærg
    • Maria Bitner-Glindzicz

    Erratum Pages: 75 - 75