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  1. No Access

    Article

    Geographic distribution and origin of CFTR mutations in Germany

    The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromos...

    B. Tümmler, T. Storrs, V. Dziadek, T. Dörk, B. Tümmler, H. von der Hardt… in Human Genetics (1996)

  2. No Access

    Article

    A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)

    X-linked retinitis pigmentosa (xIRP) is a severe progressive retinal degeneration which affects about 1 in 25,000 of the population. The most common form of xIRR RP3, has been localised to the interval between CY...

    A. Meindl, K. Dry, K. Herrmann, E. Manson, A. Ciccodicola, A. Edgar… in Nature Genetics (1996)

  3. No Access

    Article

    A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets

    X–linked hypophosphatemic rickets (HYP) is a dominant disorder characterised by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in t...

    F. Francis, S. Hennig, B. Korn, R. Reinhardt, P. de Jong, A. Poustka… in Nature Genetics (1995)

  4. No Access

    Article

    Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome

    Employing a modified Goss-Harris irradiation fusion protocol, we have generated a panel of somatic cell hybrids containing various overlap** fragments of the Xcen-Xp11.4 interval. This region of the human X ...

    W. Berger, A. Meindl, B. de Leeuw, A. de Roos, T. J. R. van de Pol… in Human Genetics (1992)

  5. No Access

    Article

    Isolation of a candidate gene for Norrie disease by positional cloning

    The gene for Norrie disease, an X–linked disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness, has been mapped to chromosome Xp11 close to DXS7 and the monoamine oxidase (MA...

    W. Berger, A. Meindl, T.J.R. van de Pol, F.P.M. Cremers, H.H. Ropers… in Nature Genetics (1992)