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Referenced by
Claims1. An isolated protein having the amino acid sequence of SEQ ID NO: 78. 2. An isolated gene product encoded by a nucleic acid containing at least one mutation that results in expression of said gene product in a Bloom's syndrome patient, said nucleic acid corresponding to a mutated form of nucleic acid encoding the amino acid sequence contained in SEQ ID NO: 78, wherein said mutation is characterized by: (i) a deletion of nucleotides 631-633 of SEQ ID NO: 72; (ii) a substitution of A with T at nucleotide 888 of SEQ ID NO: 72; (iii) an insertion of A after nucleotide 1610 of SEQ ID NO: 72; (iv) a substitution of A with G at nucleotide 2089 of SEQ ID NO: 72; (v) a replacement of nucleotides ATCTGA at position 2281-2286 of SEQ ID NO: 72 with nucleotides TAGATTC; (vi) a substitution of T with C at nucleotide 2596 of SEQ ID NO: 72; or (vii) a substitution of G with C at nucleotide 3238 of SEQ ID NO: 72. 3. The gene product of claim 2, wherein said mutation is characterized by a deletion of nucleotides 631-633 of SEQ ID NO: 72. 4. The gene product of claim 2, wherein said mutation is characterized by a substitution of A with T at nucleotide 888 of SEQ ID NO: 72. 5. The gene product of claim 2, wherein said mutation is characterized by an insertion of A after nucleotide 1610 of SEQ ID NO: 72. 6. The gene product of claim 2, wherein said mutation is characterized by a substitution of A with G at nucleotide 2089 of SEQ ID NO: 72. 7. The gene product of claim 2, wherein said mutation is characterized by a replacement of nucleotides ATCTGA at position 2281-2286 of SEQ ID NO: 72 with nucleotides TAGATTC. 8. The gene product of claim 2, wherein said mutation is characterized by a substitution of T with C at nucleotide 2596 of SEQ ID NO: 72. 9. The gene product of claim 2, wherein said mutation is characterized by a substitution of G with C at nucleotide 3238 of SEQ ID NO: 72. |