Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families (1993)
- Autores:
- Autores USP: BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; TSANACLIS, ANA MARIA CROUS - FM ; ZATZ, MAYANA - IB ; KALIL FILHO, JORGE ELIAS - FM
- Unidades: IB; FM
- DOI: 10.1136/jmg.30.5.385
- Assunto: GENÉTICA MÉDICA
- Idioma: Inglês
- Imprenta:
- Fonte:
- Título do periódico: Journal of Medical Genetics
- Volume/Número/Paginação/Ano: v.30, n.5 , p.385-7, 1993
- 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. Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families. Journal of Medical Genetics, v. 30, n. 5 , p. 385-7, 1993Tradução . . Disponível em: https://doi.org/10.1136/jmg.30.5.385. Acesso em: 19 abr. 2024. -
APA
Passos-Bueno, M. R., Richard, I., Vainzof, M., Fougerousse, F., Weissenbach, J., Broux, O., et al. (1993). Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families. Journal of Medical Genetics, 30( 5 ), 385-7. doi:10.1136/jmg.30.5.385 -
NLM
Passos-Bueno MR, Richard I, Vainzof M, Fougerousse F, Weissenbach J, Broux O, Cohen D, Akiyama J, Marie SKN, Carvalho AA, Guilherme L. Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families [Internet]. Journal of Medical Genetics. 1993 ;30( 5 ): 385-7.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1136/jmg.30.5.385 -
Vancouver
Passos-Bueno MR, Richard I, Vainzof M, Fougerousse F, Weissenbach J, Broux O, Cohen D, Akiyama J, Marie SKN, Carvalho AA, Guilherme L. Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families [Internet]. Journal of Medical Genetics. 1993 ;30( 5 ): 385-7.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1136/jmg.30.5.385 - Sarcolemmal distribution of abnormal dystrophin in xp21 carriers
- Gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage
- The effect of telethonin deficiency in LGMD-2G and its expression in other forms of muscular dystrophies and congenital myopathies
- Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of duchenne's and becker muscular dystrophies of different ages
- Caracterização da proteína teletonina na distrofia muscular das cinturas tipo 2G (DMC-2G) e estudo de sua expressão nas outras formas de miopatias
- Miopatia de central core e hipertermia maligna: triagem de mutações no gene RYR1 e CACLN1A3
- Comparacao de 5 locos dinamicos em individuos caucasoides, negroides e orientais
- 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
Informações sobre o DOI: 10.1136/jmg.30.5.385 (Fonte: oaDOI API)
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