Authors:
Pepe, G
Bertini, E
Giusti, B
Brunelli, T
Comeglio, P
Saitta, B
Merlini, L
Chu, ML
Federici, G
Abbate, R
Citation: G. Pepe et al., A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen, NEUROMUSC D, 9(4), 1999, pp. 264-271
Authors:
Pepe, G
Vanegas, OC
Rickards, O
Giusti, B
Comeglio, P
Brunelli, T
Marcucci, R
Prisco, D
Gensini, GF
Abbate, R
Citation: G. Pepe et al., World distribution of the TS33C/844INS68 CBS in cis double mutation: a reliable anthropological marker, HUM GENET, 104(2), 1999, pp. 126-129
Authors:
Giusti, B
Camacho-Vanegas, O
Attanasio, M
Comeglio, P
Gori, AM
Brunelli, T
Prisco, D
Gensini, GF
Abbate, R
Pepe, G
Citation: B. Giusti et al., Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy, THROMB RES, 94(4), 1999, pp. 249-254
Authors:
Pepe, G
Giusti, B
Bertini, E
Brunelli, T
Saitta, B
Comeglio, P
Bolognese, A
Merlini, L
Federici, G
Abbate, R
Chu, ML
Citation: G. Pepe et al., A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha 1(VI) collagen chain in an Italian family affected by Bethlem myopathy, BIOC BIOP R, 258(3), 1999, pp. 802-807