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Otto et al., 2008 - Google Patents

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

Otto et al., 2008

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Document ID
4439271753984020567
Author
Otto E
Helou J
Allen S
O'Toole J
Wise E
Ashraf S
Attanasio M
Zhou W
Wolf M
Hildebrandt F
Publication year
Publication venue
Human mutation

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Nephronophthisis (NPHP), an autosomal recessive kidney disease, is the most frequent genetic cause of chronic renal failure in the first three decades of life. Mutations in eight genes (NPHP1–8) have been identified. We here describe a combined approach for …
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