Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter] (2002)
- Authors:
- Autor USP: BUENO, MARIA RITA DOS SANTOS E PASSOS - IB
- Unidade: IB
- Subjects: GENÉTICA MÉDICA; MALFORMAÇÕES; MUTAÇÃO GENÉTICA
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Medical Genetics
- ISSN: 0022-2593
- Volume/Número/Paginação/Ano: v. 39, n. 7, p. 493-495, 2002
-
ABNT
SPLENDORE, Alessandra e JABS, E. W. e PASSOS-BUENO, Maria Rita. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]. Journal of Medical Genetics. London: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 11 jan. 2026. , 2002 -
APA
Splendore, A., Jabs, E. W., & Passos-Bueno, M. R. (2002). Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]. Journal of Medical Genetics. London: Instituto de Biociências, Universidade de São Paulo. -
NLM
Splendore A, Jabs EW, Passos-Bueno MR. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]. Journal of Medical Genetics. 2002 ; 39( 7): 493-495.[citado 2026 jan. 11 ] -
Vancouver
Splendore A, Jabs EW, Passos-Bueno MR. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]. Journal of Medical Genetics. 2002 ; 39( 7): 493-495.[citado 2026 jan. 11 ] - Endostatin measurement as preliminary screening test for the diagnosis of Knobloch syndrome
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