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Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype
BACKGROUND: Wilson disease (WD) is an Autosomal-Recessive disorder due to mutations of ATP7B gene on chromosome 13q14.3. Inadequate protein function leads to low ceruloplasmin blood levels and copper accumulation in liver, basal ganglia and chornea. Main clinical manifestations are hypertransaminase...
में बचाया:
| में प्रकाशित: | BMC Med Genet |
|---|---|
| मुख्य लेखकों: | , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BioMed Central
2020
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7291468/ https://ncbi.nlm.nih.gov/pubmed/32532207 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01062-6 |
| टैग : |
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