Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease – a case report
Author:
Funder
IGA MZ CR
Charles Universty, Prague
Charles University, Prague
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
http://link.springer.com/content/pdf/10.1186/s12882-018-0978-2.pdf
Reference39 articles.
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2. Gabow PA. Autosomal dominant polycystic kidney disease. N Engl J Med. 1993;329(5):332–42.
3. Chapman AB, Devuyst O, Eckardt KU, Gansevoort RT, Harris T, Horie S, et al. Autosomal dominant polycystic kidney disease (ADPKD): executive summary from a kidney disease: improving global outcomes (KDIGO) controversies conference. Kidney Int. 2015;88(1):17–27.
4. European Polycystic Kidney Disease Consortium. The polycystic kidney disease I gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell. 1994;77:881–94.
5. Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S. Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. Genomics. 1993;18:467–72.
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