Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy (2014)
- Authors:
- USP affiliated authors: RAMOS, ESTER SILVEIRA - FMRP ; KIM, CHONG AE - FM ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; BERTOLA, DÉBORA ROMEO - IB
- Unidades: FMRP; FM; IB
- Subjects: OFTALMOLOGIA (MÉTODOS); DOENÇAS RETINIANAS (GENÉTICA)
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: American Journal of Human Genetics
- ISSN: 0002-9297
- Volume/Número/Paginação/Ano: v. 94, n. 1, p. 113-119, 2014
-
ABNT
YAMAMOTO, Guilherme L.; BARATELA, Wagner A. R.; ALMEIDA, Tatiana F.; et al. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. American Journal of Human Genetics, Cambridge, v. 94, n. 1, p. 113-119, 2014. Disponível em: < http://dx.doi.org/10.1016/j.ajhg.2013.11.022 >. -
APA
Yamamoto, G. L., Baratela, W. A. R., Almeida, T. F., Lazar, M., Afonso, C. L., Oyamada, M. K., et al. (2014). Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. American Journal of Human Genetics, 94( 1), 113-119. Recuperado de http://dx.doi.org/10.1016/j.ajhg.2013.11.022 -
NLM
Yamamoto GL, Baratela WAR, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LAN, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy [Internet]. American Journal of Human Genetics. 2014 ; 94( 1): 113-119.Available from: http://dx.doi.org/10.1016/j.ajhg.2013.11.022 -
Vancouver
Yamamoto GL, Baratela WAR, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LAN, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy [Internet]. American Journal of Human Genetics. 2014 ; 94( 1): 113-119.Available from: http://dx.doi.org/10.1016/j.ajhg.2013.11.022 - Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
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