The human olfactory subgenome: from sequence to structure and evolution Tania FuchsGustavo GlusmanYitzhak Pilpel Original Investigation Pages: 1 - 13
A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria Hung-Kun ChaoKwang-Jen HsiaoTsung-Sheng Su Original Investigation Pages: 14 - 19
Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the α1-antitrypsin polymorphism Susana SeixasOscar GarciaJorge Rocha Original Investigation Pages: 20 - 30
Transmission ratio distortion in offspring of heterozygous female carriers of Robertsonian translocations Fernando de VillenaCarmen Sapienza Original Investigation Pages: 31 - 36
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 WinterLutz LangbeinJürgen Schweizer Original Investigation Pages: 37 - 42
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients Violaine BourdonChristophe PhilippePhilippe Jonveaux Original Investigation Pages: 43 - 50
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America M. BassiArthur BergenM. Schiaffino Original Investigation Pages: 51 - 54
The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility L. Quintana-MurciC. KrauszK. McElreavey Original Investigation Pages: 55 - 58
AFLP fingerprinting of the human genome Michal ProchazkaKen WalderJames Xia Original Investigation Pages: 59 - 65
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome René SanterMartina KinnerJürgen Schaub Original Investigation Pages: 66 - 71
The Frequency of Inherited Disorders Database Layla Al-JaderPeter HarperDavid Cooper Short Report Pages: 72 - 74
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen Jessica TysonLisbeth TranebjærgMaria Bitner-Glindzicz Erratum Pages: 75 - 75