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Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene
BACKGROUND: Isolated polycystic liver disease (ADPLD) is an autosomal dominant Mendelian disorder. Heterozygous PRKCSH (where PRKCSH is protein kinase C substrate 80K‐H (80 kDa protein, heavy chain; MIM*177060) mutations are the most frequent cause. Routine molecular testing using Sanger sequencing...
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| 出版年: | J Clin Lab Anal |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2015
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6807128/ https://ncbi.nlm.nih.gov/pubmed/26365003 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.21875 |
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