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AssigneeMedical Research Council
InventorsPeter Charles Harris, Belen Peral, Christopher J. Ward, James Hughes, Martin Hendrik Breuning, Dorothea Johanna Maria Peters, Jeroen Hendrik Roelfsema, Julian Sampson, Dirkje Jorijntje Johanna Halley, Mark David Nellist, Lambertus Antonius Jacobus Janssen, Ajenne Lique Wilhelma Hesseling
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The present invention relates to the polycystic kidney disease 1 (PKD1) gene and its nucleic acid sequence, mutations thereof in patients having PKD1-associated disorders, the protein encoded by the PKD1 gene or its mutants, and their uses in disease diagnosis and therapy.
An isolated polycystic kidney disease 1 (PKD1) gene having the nucleic acid sequence presented in SEQ ID NO:
An isolated polycystic kidney disease 1 (PKD1) gene having the nucleic acid sequence presented in SEQ ID NO:
An isolated polycystic kidney disease 1 (PKD1) gene having the nucleic acid sequence presented in SEQ ID NO:
An isolated nucleic acid molecule wherein the molecule is an RNA transcript comprising a length of about 14 kB;
An isolated nucleic acid isolated from a patient clinically diagnosed with autosomal polycystic kidney disease, which encodes a polycystic kidney disease (PKD1) gene product, and wherein said nucleic acid comprises a mutant PKD1 gene comprising a deletion of at least 18 contiguous nucleotides as compared to the PKD1 sequence presented in SEQ ID NO:
A recombinant expression vector containing a polynucleotide consisting of SEQ ID NO:
Dependencies are inferred from the claim text.