Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1) (2003)
- Authors:
- 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
- Subjects: NEFROLOGIA; GENES
- Language: Inglês
- Imprenta:
- Publisher place: Philadelphia
- Date published: 2003
- Source:
- Título: Journal of the American Society of Nephrology
- Volume/Número/Paginação/Ano: v. 14
- Conference titles: 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: 25 fev. 2026. -
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 2026 fev. 25 ] -
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 2026 fev. 25 ] - Doenças císticas e tumores renais
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- 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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