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 do periódico: Journal of Medical Genetics
- ISSN: 0022-2593
- Volume/Número/Paginação/Ano: v. 52, n. 2, p. 123-127, Feb. 2015
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
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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: 24 maio 2024. -
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 2024 maio 24 ] 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 2024 maio 24 ] Available from: https://doi.org/10.1136/jmedgenet-2014-102793 - Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations
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Informações sobre o DOI: 10.1136/jmedgenet-2014-102793 (Fonte: oaDOI API)
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