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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethoninMOREIRA, E. S; WILTSHIRE, T. J; JENNE, D. E et al.Nature genetics. 2000, Vol 24, Num 2, pp 163-166, issn 1061-4036Article

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndromeSUZUKI, O. T; SERTIE, A. L; OLSEN, B. R et al.American journal of human genetics. 2002, Vol 71, Num 6, pp 1320-1329, issn 0002-9297, 10 p.Article

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