Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 brazilian families (1995)
- Authors:
- USP affiliated authors: BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; CERQUEIRA, ANTONIA MARIA PEREIRA DE - IB ; ZATZ, MAYANA - IB
- Unidade: IB
- DOI: 10.1136/jmg.32.1.14
- Assunto: GENÉTICA MÉDICA
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Medical Genetics
- Volume/Número/Paginação/Ano: v.32, n.1 , p.14-8, jan. 1995
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
-
ABNT
PASSOS-BUENO, Maria Rita et al. Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 brazilian families. Journal of Medical Genetics, v. 32, n. ja 1995, p. 14-8, 1995Tradução . . Disponível em: https://doi.org/10.1136/jmg.32.1.14. Acesso em: 28 dez. 2025. -
APA
Passos-Bueno, M. R., Cerqueira, A. M. P., Vainzof, M., Marie, S. K. N., & Zatz, M. (1995). Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 brazilian families. Journal of Medical Genetics, 32( ja 1995), 14-8. doi:10.1136/jmg.32.1.14 -
NLM
Passos-Bueno MR, Cerqueira AMP, Vainzof M, Marie SKN, Zatz M. Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 brazilian families [Internet]. Journal of Medical Genetics. 1995 ;32( ja 1995): 14-8.[citado 2025 dez. 28 ] Available from: https://doi.org/10.1136/jmg.32.1.14 -
Vancouver
Passos-Bueno MR, Cerqueira AMP, Vainzof M, Marie SKN, Zatz M. Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 brazilian families [Internet]. Journal of Medical Genetics. 1995 ;32( ja 1995): 14-8.[citado 2025 dez. 28 ] Available from: https://doi.org/10.1136/jmg.32.1.14 - Molecular biology enhancing our understanding and improving the prevention of hereditary myopathies in the brazilian population
- High proportion of new mutations and possible anticipation in brazilian facioscapulohumeral muscular dystrophy families
- High proportion of new mutations and possible anticipation following molecular genetic studies in brazilian facioscapulohumeral muscular dystrophy (fshd) families
- Comparacao de 5 locos dinamicos em individuos caucasoides, negroides e orientais
- Racial effect on serum creatine-kinase: implications for estimation of heterozygosity risks for females at-risk for Duchenne dystrophy
- Proportion of sca1 and machado-joseph (mjd / sca3) and different origins of mutations for the mjd / sca3 disease
- Positional cloning of a gene for autosomal recessive limb-girdle muscular dystrophy
- Is there an association between deletions/point mutations in the dystrophin gene and mental impaiment in Duchenne/Becker patients?
- A novel stop codon mutation in the PMP22 gene associated with a variable phenotype
- Mild and severe muscular dystrophy caused by a single 'GAMA'- sarcoglycan mutation
Informações sobre o DOI: 10.1136/jmg.32.1.14 (Fonte: oaDOI API)
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