A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
Eloisa S. Moreira Mariz Vainzof; Suely Kazue Nagahashi Marie; Vicenzo Nigro; Mayana Zatz; Maria Rita Passos-Bueno
Journal of Medical Genetics Londres v. 35, p. 951-953, 1998
Londres 1998
Item não circula. Consulte sua biblioteca.(Acessar)
A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
Eloisa S. Moreira Mariz Vainzof; Suely Kazue Nagahashi Marie; Vicenzo Nigro; Mayana Zatz; Maria Rita Passos-Bueno
Journal of Medical Genetics Londres v. 35, p. 951-953, 1998
Londres 1998
Item não circula. Consulte sua biblioteca.(Acessar)
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families
Maria Rita Passos-Bueno I Richard; M Vainzof; F Fougerousse; J Weissenbach; O Broux; D Cohen; J Akiyama; Suely Kazue Nagahashi Marie; A. A Carvalho; L Guilherme
London v.30, n.5 , p.385-7, 1993 Journal of Medical Genetics
London 1993
Item não circula. Consulte sua biblioteca.(Acessar)
Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 brazilian families
Maria Rita Passos-Bueno E S Moreira; Suely Kazue Nagahashi Marie; R Bashir; L Vasquez; D R Love; M Vainzof; P Iughetti; J. R Oliveira; E Bakker; T Strachan
London v.33, p.97-102, 1996 Journal of Medical Genetics
London 1996
Item não circula. Consulte sua biblioteca.(Acessar)
Automated genomic sequence analysis of the three collagen VI genes applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
A. K. Lampe D. M Dunn; A. C. van Niederhausern; C Hamil; A Aoyagi; S. H Laval; S. K Marie; M.-L Chu; K Swoboda; F Muntoni; C. G Bonnemann; K. M Flanigan; K. M. D Bushby; R. B Weiss
Journal of Medical Genetics v. 42, p. 108-120, 2005
London 2005
Localização:
FM - Fac. Medicina
(FM BCSEP 167 2005 )(Acessar)
Automated genomic sequence analysis of the three collagen VI genes applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
A. K. Lampe D. M Dunn; A. C. van Niederhausern; C Hamil; A Aoyagi; S. H Laval; S. K Marie; M.-L Chu; K Swoboda; F Muntoni; C. G Bonnemann; K. M Flanigan; K. M. D Bushby; R. B Weiss
Journal of Medical Genetics v. 42, p. 108-120, 2005
London 2005
Localização:
FM - Fac. Medicina
(FM BCSEP 167 2005 )(Acessar)
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in brazilian families
Maria Rita Passos-Bueno I Richard; Mariz Vainzof; F Fougerousse; J Weissenbach; O Broux; D Cohen; J Akiyama; Suely Kazue Nagahashi Marie; A. A Carvalho; L Guilherme
London v.30, n.5 , p.385-7, 1993 Journal of Medical Genetics
London 1993
Item não circula. Consulte sua biblioteca.(Acessar)
Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 brazilian families
Maria Rita Passos-Bueno E S Moreira; Suely Kazue Nagahashi Marie; R Bashir; L Vasquez; D R Love; Mariz Vainzof; P Iughetti; J. R Oliveira; E Bakker; T Strachan
London v.33, p.97-102, 1996 Journal of Medical Genetics
London 1996
Item não circula. Consulte sua biblioteca.(Acessar)