Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family (2015)
- Authors:
- USP affiliated authors: ZATZ, MAYANA - IB ; KOK, FERNANDO - FM
- Unidades: IB; FM
- DOI: 10.1136/jmedgenet-2014-102793
- Subjects: DEFICIÊNCIA MENTAL; GENÉTICA MÉDICA; GENÉTICA MOLECULAR; MUTAÇÃO GENÉTICA
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Medical Genetics
- ISSN: 0022-2593
- Volume/Número/Paginação/Ano: v. 52, n. 2, p. 123-127, Feb. 2015
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
FIGUEIREDO, Thalita et al. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. Journal of Medical Genetics, v. 52, n. 2, p. 123-127, 2015Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2014-102793. Acesso em: 11 fev. 2026. -
APA
Figueiredo, T., Melo, U. S., Pessoa, A. L. S., Nobrega, P. R., Kitajima, J. P., Correa, I., et al. (2015). Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. Journal of Medical Genetics, 52( 2), 123-127. doi:10.1136/jmedgenet-2014-102793 -
NLM
Figueiredo T, Melo US, Pessoa ALS, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family [Internet]. Journal of Medical Genetics. 2015 ; 52( 2): 123-127.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1136/jmedgenet-2014-102793 -
Vancouver
Figueiredo T, Melo US, Pessoa ALS, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family [Internet]. Journal of Medical Genetics. 2015 ; 52( 2): 123-127.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1136/jmedgenet-2014-102793 - Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome
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Informações sobre o DOI: 10.1136/jmedgenet-2014-102793 (Fonte: oaDOI API)
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