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Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family
OBJECTIVES: To identify genetic variation involved in primary microcephaly. METHODS: In present study we identified 4 generation Saudi family showing primary microcephaly. We performed whole exome sequencing along with Sanger sequencing to find the genetic defect in this family. This study was condu...
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| 出版年: | Neurosciences (Riyadh) |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Riyadh : Armed Forces Hospital
2018
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8015564/ https://ncbi.nlm.nih.gov/pubmed/30351297 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.17712/nsj.2018.4.20180095 |
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