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Title: Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene
Authors: BEM, Ricardo Schmitt deRASKIN, SalmoMUZZILLO, Dominique AraujoDEGUTI, Marta MitikoCANCADO, Eduardo Luiz RachidARAUJO, Thiago FerreiraNAKHLE, Maria CristinaBARBOSA, Egberto ReisMUNHOZ, Renato PuppiTEIVE, Helio Afonso Ghizoni
Citation: ARQUIVOS DE NEURO-PSIQUIATRIA, v.71, n.8, p.503-507, 2013
Abstract: Objective: Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil. Methods: 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed. Results: Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1%) followed by the c.3402delC at exon 15 (allelic frequency=11.4%). The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time. Conclusion: The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.
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Artigos e Materiais de Revistas Científicas - FM/MGT
Departamento de Gastroenterologia - FM/MGT

Artigos e Materiais de Revistas Científicas - HC/ICHC
Instituto Central - HC/ICHC

Artigos e Materiais de Revistas Científicas - IMT
Instituto de Medicina Tropical - IMT

Artigos e Materiais de Revistas Científicas - LIM/06
LIM/06 - Laboratório de Imunopatologia da Esquistossomose e outras Parasitoses

Artigos e Materiais de Revistas Científicas - LIM/45
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica

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