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Case Reports
. 2008 Jan;8(1):232-7.
doi: 10.1111/j.1600-6143.2007.02030.x. Epub 2007 Oct 31.

Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation

A Connor  1 , P W Lunt, C Dolling, Y Patel, A L Meredith, A Gardner, N K Hamilton, C R K Dudley
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Free article
Case Reports

Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation

A Connor et al. Am J Transplant. 2008 Jan.
Free article

Abstract

Patients with end-stage renal disease (ESRD) secondary to autosomal dominant polycystic kidney disease (ADPKD) receive fewer living-related kidney (LRK) transplants than other groups with ESRD. This relates to the difficulties in excluding the disease in potential donors. We report a case which highlights these difficulties and, by discovery of mosaicism for a new mutation, illustrates the role of clinical and molecular genetic resources in assessing young related kidney donors for patients with ADPKD.

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