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Results: 1-3 |
Results: 3
Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia
Authors: Rees, MI Lewis, TM Vafa, B Ferrie, C Corry, P Muntoni, F Jungbluth, H Stephenson, JBP Kerr, M Snell, RG Schofield, RR Owen, MJ
Citation: Mi. Rees et al., Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia, HUM GENET, 109(3), 2001, pp. 267-270
Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA(3))
Authors: Rees, MI Watts, P Fenton, I Clarke, A Snell, RG Owen, MJ Gray, J
Citation: Mi. Rees et al., Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA(3)), HUM GENET, 106(2), 2000, pp. 206-209
Amyloid-like inclusions in Huntington's disease
Authors: McGowan, DP van Roon-Mom, W Holloway, H Bates, GP Mangiarini, L Cooper, GJS Faull, RLM Snell, RG
Citation: Dp. Mcgowan et al., Amyloid-like inclusions in Huntington's disease, NEUROSCIENC, 100(4), 2000, pp. 677-680
Risultati: 1-3 |