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publicationName Pediatric nephrology (Berlin, Germany)
startingPage 273
bibliographicCitation Lambie L, Amin R, Essop F, Cnaan A, Krause A, Guay-Woodford LM. Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD. Pediatr Nephrol. 2015 Feb;30(2):273–9. doi: 10.1007/s00467-014-2917-1. PMID: 25193386.
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title Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD
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