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A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family
Congenital analbuminemia is an autosomal recessive disorder, in which albumin, the major blood protein, is present only in a minute amount. The condition is a rare allelic heterogeneous defect, only about seventy cases have been reported worldwide. To date, more than twenty different mutations withi...
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| 出版年: | Biochem Med (Zagreb) |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Croatian Society of Medical Biochemistry and Laboratory Medicine
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4910280/ https://ncbi.nlm.nih.gov/pubmed/27346974 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11613/BM.2016.031 |
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