GENE FOR FRIEDREICH'S ATAXIA

摘要

Idenfification of a gene, STM7, encoding for a novel phosphatidylinositol isoform responsible for Friedreich's Ataxia is claimed as well as splice variants resulting from recombination events. Of particular importance is the area of STM7 gene spanning exons 1 to 17, inclusive. The nucleic and amino acid sequences, cDNA sequences, antibodies and DNA probes complementary to the nucleic and amino acid sequences are also claimed as part of the present invention. Transgenic animals and diagnostic protocols are also given.