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Results: 1-2 |
Results: 2
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome
Authors: Lopez-Bigas, N Rabionet, R de Cid, R Govea, N Gasparini, P Zelante, L Arbones, ML Estivill, X
Citation: N. Lopez-bigas et al., Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome, HUM MUTAT, 14(6), 1999, pp. 520-526
The A1555G mutation in the 12S rRNA gene of human mtDNA: Recurrent originsand founder events in families affected by sensorineural deafness
Authors: Torroni, A Cruciani, F Rengo, C Sellitto, D Lopez-Bigas, N Rabionet, R Govea, N de Munain, AL Sarduy, M Romero, L Villamar, M del Castillo, I Moreno, F Estivill, X Scozzari, R
Citation: A. Torroni et al., The A1555G mutation in the 12S rRNA gene of human mtDNA: Recurrent originsand founder events in families affected by sensorineural deafness, AM J HU GEN, 65(5), 1999, pp. 1349-1358
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