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Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome
Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by developmental abnormalities in several organs including the liver, heart, eyes, vertebrae, kidneys, and face. The majority (90-94 %) of ALGS cases are caused by mutations in the JAG1 (JAGGED1) gene, and in a small percent of...
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| 主要な著者: | , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer Berlin Heidelberg
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4102774/ https://ncbi.nlm.nih.gov/pubmed/24748328 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-014-0212-2 |
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