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  1. No Access

    Article

    Promoter polymorphisms in two overlap** 6p25 genes implicate mitochondrial proteins in cognitive deficit in schizophrenia

    In a previous study, we detected a 6p25–p24 region linked to schizophrenia in families with high composite cognitive deficit (CD) scores, a quantitative trait integrating multiple cognitive measures. Associati...

    A Jablensky, D Angelicheva, G J Donohoe, M Cruickshank, D N Azmanov… in Molecular Psychiatry (2012)

  2. No Access

    Article

    The origin of the major cystic fibrosis mutation (ΔF508) in European populations

    ΔF508 is the most frequent cystic fibrosis (CF) mutation and accounts for approximately 70% of CF chromosomes worldwide. Three highly polymorphic microsatellite markers have been used to study the origin and e...

    N. Morral, J. Bertranpetit, X. Estivill, V. Nunes, T. Casals, J. Giménez… in Nature Genetics (1994)

  3. No Access

    Article

    Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

    The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. We have gathered data from laboratories throughout Europe and the United States of America i...

    L. Osborne, G. Santis, M. Schwarz, K. Klinger, T. Dörk, I. McIntosh… in Human Genetics (1992)