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    Article

    Toward the complete genomic map and molecular pathology of human chromosome 4

    The identification of disease genes via molecular DNA cloning has revolutionized human genetics and medicine. Both the candidate gene approach and positional cloning have been used successfully. The defects ca...

    Olaf Rieß, Birgit Winkelmann, Jörg T. Epplen in Human Genetics (1994)

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    Article

    Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization

    Mutations in the spatacsin gene have recently been identified as the genetic cause of autosomal–recessive spastic paraplegia (SPG) with thin corpus callosum, map** to chromosome 15p13–21. While several nonsense...

    Peter Bauer, Beate Winner, Rebecca Schüle, Claudia Bauer, Veronika Häfele… in neurogenetics (2009)