Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff Disease: functional characterization of 9 novel sequence variants (2012)
- Authors:
- Autor USP: LOURENÇO, CHARLES MARQUES - FMRP
- Unidade: FMRP
- DOI: 10.1371/journal.pone.0041516
- Subjects: TRANSFECÇÃO; REAÇÃO EM CADEIA POR POLIMERASE; DELEÇÃO DE GENES; MUTAÇÃO GENÉTICA; LISOSSOMOS; DOENÇAS NEURODEGENERATIVAS
- Keywords: Transfection; Mutation; Mutation detection; Nonsense mutation; Polymerase chain reaction; Deletion mutation; Immunoprecipitation; Ligation assay
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: San Francisco
- Date published: 2012
- Source:
- Este periódico é de acesso aberto
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: gold
- Licença: cc-by
-
ABNT
ZAMPIERI, Stefania et al. Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff Disease: functional characterization of 9 novel sequence variants. PLOS ONE, v. 7, n. 7, p. 1-10, 2012Tradução . . Disponível em: https://doi.org/10.1371/journal.pone.0041516. Acesso em: 16 out. 2024. -
APA
Zampieri, S., Cattarossi, S., Oller Ramirez, A. M., Rosano, C., Lourenço, C. M., Passon, N., et al. (2012). Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff Disease: functional characterization of 9 novel sequence variants. PLOS ONE, 7( 7), 1-10. doi:10.1371/journal.pone.0041516 -
NLM
Zampieri S, Cattarossi S, Oller Ramirez AM, Rosano C, Lourenço CM, Passon N, Moroni I, Uziel G, Pettinari A, Stanzial F, Kremer RD de, Azar NB, Hazan F, Filocamo M, Bembi B, Dardis A. Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff Disease: functional characterization of 9 novel sequence variants [Internet]. PLOS ONE. 2012 ; 7( 7): 1-10.[citado 2024 out. 16 ] Available from: https://doi.org/10.1371/journal.pone.0041516 -
Vancouver
Zampieri S, Cattarossi S, Oller Ramirez AM, Rosano C, Lourenço CM, Passon N, Moroni I, Uziel G, Pettinari A, Stanzial F, Kremer RD de, Azar NB, Hazan F, Filocamo M, Bembi B, Dardis A. Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff Disease: functional characterization of 9 novel sequence variants [Internet]. PLOS ONE. 2012 ; 7( 7): 1-10.[citado 2024 out. 16 ] Available from: https://doi.org/10.1371/journal.pone.0041516 - Ataxias hereditárias com hipogonadismo: estudo clínico, laboratorial e neurofisiológico
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Informações sobre o DOI: 10.1371/journal.pone.0041516 (Fonte: oaDOI API)
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