Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families.
Por:
Pomares E, Burés-Jelstrup A, Ruiz-Nogales S, Corcóstegui B, Gonzalez R and Navarro R
Publicada:
31 ene 2012
Resumen:
To characterize the molecular basis of two novel BEST1 mutations causing autosomal recessive bestrophinopathy (ARB). Strong evidence argues in favor of the dominant negative effects of most autosomal dominantly inherited mutations, whereas there is only weak support for the molecular basis of the ARB phenotype.
Filiaciones:
Pomares E:
Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
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