Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts (2005)
- Authors:
- Autor USP: ONUCHIC, LUIZ FERNANDO - FM
- Unidade: FM
- DOI: 10.1136/jmg.2004.024489
- Subjects: GENOMAS (ANÁLISE); NEFROPATIAS (GENÉTICA); MUTAÇÃO GENÉTICA; POLIMORFISMO
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Medical Genetics
- ISSN: 0022-2593
- Volume/Número/Paginação/Ano: v. 42, p. 336-349, 2005
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
SHARP, A. M. et al. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. Journal of Medical Genetics, v. 42, p. 336-349, 2005Tradução . . Disponível em: https://doi.org/10.1136/jmg.2004.024489. Acesso em: 04 mar. 2026. -
APA
Sharp, A. M., Messiaen, L. M., Page, G., Gubler, M. -C., Antignac, C., Onuchic, L. F., et al. (2005). Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. Journal of Medical Genetics, 42, 336-349. doi:10.1136/jmg.2004.024489 -
NLM
Sharp AM, Messiaen LM, Page G, Gubler M-C, Antignac C, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts [Internet]. Journal of Medical Genetics. 2005 ; 42 336-349.[citado 2026 mar. 04 ] Available from: https://doi.org/10.1136/jmg.2004.024489 -
Vancouver
Sharp AM, Messiaen LM, Page G, Gubler M-C, Antignac C, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts [Internet]. Journal of Medical Genetics. 2005 ; 42 336-349.[citado 2026 mar. 04 ] Available from: https://doi.org/10.1136/jmg.2004.024489 - Doenças císticas e tumores renais
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- 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
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- 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
Informações sobre o DOI: 10.1136/jmg.2004.024489 (Fonte: oaDOI API)
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