Patent ID: 8835618

Claim:
An isolated nucleic acid molecule encoding a human parkin comprising a cDNA sequence of SEQ ID NO:1 with at least one genetic alteration comprising: a) a deletion of one or more exons selected from the group consisting of: exon 2, exons 2-3, exons 2-4, exons 3-4, exons 3-6, exons 3-9, exon 5, exons 5-6, exon 6, exons 6-7, exons 7-9, and exon 8; b) a multiplication of exons selected from the group consisting of: a triplication of exon 2, a duplication of exon 3, a duplication of exon 6, a duplication of exon 7, and a duplication of exon 11; c) a point mutation selected from the group consisting of: a mutation from adenine to thymine at position 584, a mutation from guanine to adenine at position 601, a mutation from adenine to thymine at position 734, a mutation from cytosine to thymine at position 867, a mutation from thymine to adenine at position 905, a mutation from cytosine to thymine at position 924, a mutation from guanine to adenine at position 939, a mutation from thymine to guanine at position 966, a mutation from guanine to adenine at position 1084, a mutation from cytosine to thymine at position 1101, a mutation from guanine to cytosine at position 1239, a mutation from guanine to adenine at position 1281, a mutation from cytosine to adenine at position 1345, a mutation from guanine to adenine at position 1390, and a mutation from guanine to adenine at position 1459; d) a deletion of 1 or more contiguous base pairs selected from the group consisting of: a deletion of nucleotides adenine and guanine at positions 202-203, a deletion of adenine at position 255, and a deletion of nucleotides guanine and adenine at positions 1142-1143; or e) an insertion of 1 or more contiguous base pairs selected from the group consisting of: an insertion of guanine and thymine at positions 321-322.