A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient

Wilson disease (WD) results from accumulation of copper and caused due to mutations in ATP7B, a copper transporting ATPase. Besides regular hepatic and neurological symptoms, WD patients occasionally manifest atypical symptoms due to unknown cause. To understand the molecular etiology of atypical WD...

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Detalles Bibliográficos
Autores principales: Gupta, Arnab, Chattopadhyay, Ishita, Mukherjee, Shashwata, Sengupta, Mainak, Das, Shyamal K, Ray, Kunal
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Short Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896338/
https://www.ncbi.nlm.nih.gov/pubmed/20550661
http://dx.doi.org/10.1186/1744-9081-6-33

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896338/
https://www.ncbi.nlm.nih.gov/pubmed/20550661
http://dx.doi.org/10.1186/1744-9081-6-33

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