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Refinement of the Genomic Structure of STX1A and Mutation Analysis in Nondeletion Williams Syndrome Patients
Williams syndrome (WS) is a contiguous gene deletion disorder in which the commonly deleted region contains at least 17 genes. One of these genes, Syntaxin 1A (STX1A), codes for a protein that is highly expressed in the nervous system and is essential for the docking of synaptic vesicles with the pr...
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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: |
2002
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2893211/ https://ncbi.nlm.nih.gov/pubmed/11977160 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.10321 |
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