SNP information rs76151636
Normal allele: GG
Polymorphisms associated with Wilson's disease. Wilson's disease is an inherited disorder in which excess copper is stored in the body.
Polymorphism rs76151636 is related to topics like this:
Wilson's disease is an autosomal recessive condition, necessitating that both parents carry at...
Research and publications:
7626145 The Wilson disease gene: spectrum of mutations and their consequences.
8298641 The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.
8533760 Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
9352458 Very high frequency of the His1069Gln mutation in Polish Wilson disease patients.
10502777 A study of Wilson disease mutations in Britain.
11857545 Common mutations of ATP7B in Wilson disease patients from Hungary.
16207219 Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.
20301685 Wilson Disease.
31482689 Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia.
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