High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes (2000)
- Authors:
- Autor USP: BUENO, MARIA RITA DOS SANTOS E PASSOS - IB
- Unidade: IB
- DOI: 10.1002/1098-1004(200010)16:4%3C315::aid-humu4%3E3.0.co;2-h
- Assunto: GENÉTICA MÉDICA
- Language: Inglês
- Imprenta:
- Source:
- Título: Human Mutation
- ISSN: 1059-7794
- Volume/Número/Paginação/Ano: v. 16, p. 315-322, 2000
- Este periódico é de acesso aberto
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: gold
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ABNT
SPLENDORE, Alessandra et al. High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes. Human Mutation, v. 16, p. 315-322, 2000Tradução . . Disponível em: https://doi.org/10.1002/1098-1004(200010)16:4%3C315::aid-humu4%3E3.0.co;2-h. Acesso em: 12 jan. 2026. -
APA
Splendore, A., Silva, E. O. da, Alonso, L. G., Richieri-Costa, A., Alonso, N., Rosa, A., et al. (2000). High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes. Human Mutation, 16, 315-322. doi:10.1002/1098-1004(200010)16:4%3C315::aid-humu4%3E3.0.co;2-h -
NLM
Splendore A, Silva EO da, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushansky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes [Internet]. Human Mutation. 2000 ; 16 315-322.[citado 2026 jan. 12 ] Available from: https://doi.org/10.1002/1098-1004(200010)16:4%3C315::aid-humu4%3E3.0.co;2-h -
Vancouver
Splendore A, Silva EO da, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushansky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes [Internet]. Human Mutation. 2000 ; 16 315-322.[citado 2026 jan. 12 ] Available from: https://doi.org/10.1002/1098-1004(200010)16:4%3C315::aid-humu4%3E3.0.co;2-h - Endostatin measurement as preliminary screening test for the diagnosis of Knobloch syndrome
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Informações sobre o DOI: 10.1002/1098-1004(200010)16:4%3C315::aid-humu4%3E3.0.co;2-h (Fonte: oaDOI API)
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