A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46, XY patient with denys-Drash syndrome (2011)
- Authors:
- USP affiliated authors: CARVALHO, FILOMENA MARINO - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- DOI: 10.1007/s00467-011-1847-4
- Subjects: MUTAÇÃO GENÉTICA; NEFROPATIAS (GENÉTICA); EVOLUÇÃO CLÍNICA; PROTEINÚRIA
- Language: Inglês
- Imprenta:
- Source:
- Título: Pediatric nephrology
- ISSN: 0931-041X
- Volume/Número/Paginação/Ano: v. 26, n. 8, p. 1311-1315, 2011
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
SILVA, Thatiana Evilen da et al. A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46, XY patient with denys-Drash syndrome. Pediatric nephrology, v. 26, n. 8, p. 1311-1315, 2011Tradução . . Disponível em: https://doi.org/10.1007/s00467-011-1847-4. Acesso em: 09 jan. 2026. -
APA
Silva, T. E. da, Nishi, M. Y., Costa, E. M. F., Martin, R. M., Carvalho, F. M., Mendonça, B. B., & Domenice, S. (2011). A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46, XY patient with denys-Drash syndrome. Pediatric nephrology, 26( 8), 1311-1315. doi:10.1007/s00467-011-1847-4 -
NLM
Silva TE da, Nishi MY, Costa EMF, Martin RM, Carvalho FM, Mendonça BB, Domenice S. A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46, XY patient with denys-Drash syndrome [Internet]. Pediatric nephrology. 2011 ; 26( 8): 1311-1315.[citado 2026 jan. 09 ] Available from: https://doi.org/10.1007/s00467-011-1847-4 -
Vancouver
Silva TE da, Nishi MY, Costa EMF, Martin RM, Carvalho FM, Mendonça BB, Domenice S. A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46, XY patient with denys-Drash syndrome [Internet]. Pediatric nephrology. 2011 ; 26( 8): 1311-1315.[citado 2026 jan. 09 ] Available from: https://doi.org/10.1007/s00467-011-1847-4 - 46,XY disorder of sex development (DSD) due to 17b-hydroxysteroid dehydrogenase type 3 deficiency
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Informações sobre o DOI: 10.1007/s00467-011-1847-4 (Fonte: oaDOI API)
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