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Functional analysis ofPKHD1splicing in autosomal recessive polycystic kidney disease

✍ Scribed by Carsten Bergmann; Valeska Frank; Fabian Küpper; Christa Schmidt; Jan Senderek; Klaus Zerres

Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
208 KB
Volume
51
Category
Article
ISSN
1435-232X

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PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
✍ Carsten Bergmann; Jan Senderek; Fabian Küpper; Frank Schneider; Christian Dornia 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 277 KB

## Communicated by Jurgen Horst Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal-and liverrelated morbidity and mortality. The clinical spectrum is widely variable. About 30 to 50% of affected individuals die in the neonatal period, while others survive