Wilson disease (WD) is an autosomal recessive disorder characterized by deposition of copper in the body, mainly in the liver and brain. WD patients present with hepatic, neurological, and psychiatric problems. The diagnosis of WD is very challenging, and is performed by taking
into account both clinical and biochemical parameters. The treatment of WD exists, which aims at initial chelation therapy followed by maintenance therapy. WD is caused by mutations in the ATP7B gene. Till date, more than 600 mutations in ATP7B have already been described from many countries, including India. However, there are a very few large cohort studies which are
reported from Indian population. In this study, we have attempted to perform mutation analysis of ATP7B in a large cohort of WD families from Bangalore, south India, and further look into the molecular consequences of the novel mutations identified in the present study.
| Identifer | oai:union.ndltd.org:IISc/oai:etd.ncsi.iisc.ernet.in:2005/3273 |
| Date | January 2017 |
| Creators | Singh, Nivedita |
| Contributors | Kumar, Arun |
| Source Sets | India Institute of Science |
| Language | en_US |
| Detected Language | English |
| Type | Thesis |
| Relation | G28467 |
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