CPC C12Q 1/6883 (2013.01) [C12Q 2600/118 (2013.01); C12Q 2600/156 (2013.01); C12Q 2600/158 (2013.01)] | 4 Claims |
1. A method for detecting in an individual a mutant PKD1 gene comprising:
a) obtaining a nucleic acid sample from said individual; and
b) detecting in the nucleic acid sample a nucleotide sequence alteration in a PKD1 gene of said individual, wherein said alteration is a change of a C to a T at nucleotide position 4517 of SEQ ID NO:1,
wherein detection of the nucleotide sequence alteration is indicative of a mutant PKD1 gene.
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