A novelWT1heterozygous nonsense mutation (p.K248X) causing...

Pediatric Nephrology 2011 / 08 Vol. 26; Iss. 8

A novelWT1heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys–Drash syndrome

Thatiana Evilen da Silva, Mirian Yumie Nishi, Elaine Maria Frade Costa, Regina Matsunaga Martin, Filomena Marino Carvalho, Berenice Bilharinho Mendonca, Sorahia Domenice
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Volume:
26
Language:
english
Pages:
5
DOI:
10.1007/s00467-011-1847-4
Date:
August, 2011
File:
PDF, 193 KB
english, 2011
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