A mild and unusual CMT compound phenotype due to the presence of two mutations in pmP22 gene: 17p duplication and Ser72Leuc (2008)
- Authors:
- USP affiliated authors: BARREIRA, AMILTON ANTUNES - FMRP ; MARQUES JÚNIOR, WILSON - FMRP
- Unidade: FMRP
- Subjects: MUTAÇÃO GENÉTICA; FENÓTIPOS
- Language: Inglês
- Imprenta:
- Publisher place: Philadelphia
- Date published: 2008
- Source:
- Conference titles: Annual Meeting of The American Academy of Neurology
-
ABNT
MARQUES JÚNIOR, Wilson; LIMA, Silmara S. P. G.; BORGHTTI, Vinicius H. S.; BUENO, Keity C.; BARREIRA, Amilton Antunes. A mild and unusual CMT compound phenotype due to the presence of two mutations in pmP22 gene: 17p duplication and Ser72Leuc. Neurology[S.l: s.n.], 2008. -
APA
Marques Júnior, W., Lima, S. S. P. G., Borghtti, V. H. S., Bueno, K. C., & Barreira, A. A. (2008). A mild and unusual CMT compound phenotype due to the presence of two mutations in pmP22 gene: 17p duplication and Ser72Leuc. Neurology. Philadelphia. -
NLM
Marques Júnior W, Lima SSPG, Borghtti VHS, Bueno KC, Barreira AA. A mild and unusual CMT compound phenotype due to the presence of two mutations in pmP22 gene: 17p duplication and Ser72Leuc. Neurology. 2008 ; 70( 11): A313. -
Vancouver
Marques Júnior W, Lima SSPG, Borghtti VHS, Bueno KC, Barreira AA. A mild and unusual CMT compound phenotype due to the presence of two mutations in pmP22 gene: 17p duplication and Ser72Leuc. Neurology. 2008 ; 70( 11): A313. - Características genéticas de uma população brasileira com doença de charcot-marie-tooth desmielinizante (CMT1) e duplicação de região 17P11.2
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