Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1) (2003)
- Autores:
- Bergmann, Carsten
- Senderek, Jan
- Sedlacek, Beate
- Pegiazoglou, Ioannis
- Puglia, Patricia
- Eggermann, Thomas - Rheinisch-Westfälische Technische Hochschule Aachen (RWTH Aachen University)
- Rudnick-Schöneborn, Sabine
- Furu, Laszlo - Yale University (YALE)
- Baca, Monica de
- Germino, Gregory
- Guay-Woodford, Lisa
- Somlo, Stefan - Yale University (YALE)
- Moser, Markus
- Büttner, Reinhard
- Zerres, Klaus
- Onuchic, Luiz Fernando
- Autor USP: ONUCHIC, LUIZ FERNANDO - FM
- Unidade: FM
- Assuntos: NEFROLOGIA; GENES
- Idioma: Inglês
- Imprenta:
- Local: Philadelphia
- Data de publicação: 2003
- Fonte:
- Título do periódico: Journal of the American Society of Nephrology
- Volume/Número/Paginação/Ano: v. 14
- Nome do evento: Accredited Sponsor: The American Society of Nephrology
-
ABNT
BERGMANN, Carsten et al. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). Journal of the American Society of Nephrology, v. 14, 2003Tradução . . Acesso em: 19 set. 2024. -
APA
Bergmann, C., Senderek, J., Sedlacek, B., Pegiazoglou, I., Puglia, P., Eggermann, T., et al. (2003). Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). Journal of the American Society of Nephrology, 14. -
NLM
Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnick-Schöneborn S, Furu L, Baca M de, Germino G, Guay-Woodford L, Somlo S, Moser M, Büttner R, Zerres K, Onuchic LF. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). Journal of the American Society of Nephrology. 2003 ; 14[citado 2024 set. 19 ] -
Vancouver
Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnick-Schöneborn S, Furu L, Baca M de, Germino G, Guay-Woodford L, Somlo S, Moser M, Büttner R, Zerres K, Onuchic LF. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). Journal of the American Society of Nephrology. 2003 ; 14[citado 2024 set. 19 ] - 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
- PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
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