PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) (2004)
- Authors:
- Bergmann, Carsten
- Senderek, Jan
- Kupper, Fabian
- Schneider, Frank
- Dornia, Christian
- Windelen, Ellen
- Eggermann, Thomas
- Rudnik-Schoneborn, Sabine
- Kirfel, Jutta
- Furu, Laszlo
- Onuchic, Luiz F.
- Rossetti, Sandro
- Harris, Peter C.
- Somlo, Stefan
- Guay-Woodford, Lisa
- Germino, Gregory G.
- Moser, Markus
- Buttner, Reinhard
- Zerresm, Klaus
- Autor USP: ONUCHIC, LUIZ FERNANDO - FM
- Unidade: FM
- Subjects: CISTOS; RIM (FISIOPATOLOGIA); GENÓTIPOS; MUTAÇÃO GENÉTICA; ANTICORPOS
- Language: Inglês
- Imprenta:
- Source:
- Título: Human mutation
- ISSN: 1059-7794
- Volume/Número/Paginação/Ano: v. 23, n. 5, p. 453-463, 2004
-
ABNT
BERGMANN, Carsten et al. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Human mutation, v. 23, n. 5, p. 453-463, 2004Tradução . . Disponível em: http://onlinelibrary.wiley.com/doi/10.1002/humu.20029/pdf. Acesso em: 25 fev. 2026. -
APA
Bergmann, C., Senderek, J., Kupper, F., Schneider, F., Dornia, C., Windelen, E., et al. (2004). PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Human mutation, 23( 5), 453-463. Recuperado de http://onlinelibrary.wiley.com/doi/10.1002/humu.20029/pdf -
NLM
Bergmann C, Senderek J, Kupper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schoneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, Germino GG, Moser M, Buttner R, Zerresm K. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) [Internet]. Human mutation. 2004 ; 23( 5): 453-463.[citado 2026 fev. 25 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.20029/pdf -
Vancouver
Bergmann C, Senderek J, Kupper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schoneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, Germino GG, Moser M, Buttner R, Zerresm K. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) [Internet]. Human mutation. 2004 ; 23( 5): 453-463.[citado 2026 fev. 25 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.20029/pdf - Doenças císticas e tumores renais
- Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene
- Regulation of CFTR Expression and Arginine Vasopressin Activity Are Dependent on Polycystin-1 in Kidney-Derived Cells
- Expression of Polyductin, the PKHD1 gene product, in Normal, Dysgenetic and Neoplastic Liver
- Genomic structure and exclusion of two candidate genes for the PKHD1 locus and three new polymorphic markers within the critical interval
- Direct association of full-lenght PKD1 and PKD2 proteins in mammalian cells
- Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for atosomal recessive polycystic kidney disease
- Giant renal angiomyolipoma following ovarian stimulation therapy
- Hematúria em histórico de doença renal familiar
- KDIGO 2025 clinical practice guideline for the evaluation, management, and treatment of autosomal dominant polycystic kidney disease (ADPKD): executive summary
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