Skip to main content

3 Result(s)

within Jens Michael Hertz Remove this filter Metabolic Diseases Remove this filter

and

  1. No Access

    Article

    Multipoint linkage analysis in X-linked Alport syndrome

    In order to localize the gene for the X-linked form of Alport syndrome (ATS) more precisely, we performed restriction fragment length polymorphism analysis with nine different X-chromosomal DNA markers in 107 ...

    Jens Michael Hertz, Torben A. Kruse, Anette Thomsen, Edwin S. Spencer in Human Genetics (1991)

  2. No Access

    Article

    Pericentric inversion of chromosome 12; a three family study

    A pericentric inversion of chromosome 12 has been followed in three large independently ascertained Danish families. Out of a total number of 52 persons examined, 25 were found to carry the inversion. The brea...

    Annette Haagerup, Jens Michael Hertz in Human Genetics (1992)

  3. No Access

    Article

    Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene

    The X-linked form of Alport syndrome (AS) is caused by mutation in the COL4A5 gene located at Xq22.3 and encoding the α5-chain of type IV-collagen. More than 400 different mutations have so far been detected in t...

    Jens Michael Hertz, Ulf Persson, Inger Juncker, Mårten Segelmark in Human Genetics (2005)