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Results:
1-7
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Results: 7
Authors:
Paloma, E
Martinez-Mir, A
Vilageliu, L
Gonzalez-Duarte, R
Balcells, S
Citation: E. Paloma et al., Spectrum ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies, HUM MUTAT, 17(6), 2001, pp. 504-510
Authors:
Chabas, A
Montfort, M
Martinez-Campos, M
Diaz, A
Coll, MJ
Grinberg, D
Vilageliu, L
Citation: A. Chabas et al., Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation. (vol 100, pg 223, 2001), AM J MED G, 102(3), 2001, pp. 308-308
Authors:
Chabas, A
Montfort, M
Martinez-Campos, M
Diaz, A
Coll, MJ
Grinberg, D
Vilageliu, L
Citation: A. Chabas et al., Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: Possible single origin for 1091delC mutation, AM J MED G, 100(3), 2001, pp. 223-228
Authors:
Cormand, B
Diaz, A
Grinberg, D
Chabas, A
Vilageliu, L
Citation: B. Cormand et al., A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease, BL CELL M D, 26(5), 2000, pp. 409-416
Authors:
Diaz, A
Montfort, M
Cormand, B
Zeng, BJ
Pastores, GM
Chabas, A
Vilageliu, L
Grinberg, D
Citation: A. Diaz et al., On the age of the most prevalent Gaucher disease-causing mutation, N370S, AM J HU GEN, 66(6), 2000, pp. 2014-2015
Authors:
Diaz, A
Montfort, M
Cormand, B
Zeng, BJ
Pastores, GM
Chabas, A
Vilageliu, L
Grinberg, D
Citation: A. Diaz et al., Gaucher disease: The N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago, AM J HU GEN, 64(4), 1999, pp. 1233-1238
Authors:
Cormand, B
Harboe, TL
Gort, L
Campoy, C
Blanco, M
Chamoles, N
Chabas, A
Vilageliu, L
Grinberg, D
Citation: B. Cormand et al., Mutation analysis of Gaucher disease patients from Argentina: High prevalence of the RecNciI mutation, AM J MED G, 80(4), 1998, pp. 343-351
Risultati:
1-7
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