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: 01 jan. 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 jan. 01 ] 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 jan. 01 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.20029/pdf - Regulação do volume celular no ramo ascendente fino da alça de Henle de ratos
- Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2(beta), and GSTA1 at 6p21.1-p12
- 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
- Aumento regulatório do volume celular em túbulos de malpighi
- Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene
- Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development
- Contribuições dos Modelos Animais ao Entendimento da Patogênese das Doenças Renais Policísticas
- Recombinant and endogenous polyductin (PD1) is secreted from primary cilia
- Molecular and cellular pathogenesis of autosomal dominant polycystic kidney disease
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