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肉碱棕榈酰转移酶Ⅱ缺乏症家系CPT2基因突变分析及产前诊断
This study aimed to identify the type of carnitine palmitoyl transferase 2 (CPT2) gene mutation in the child with carnitine palmitoyl transferase Ⅱ (CPT Ⅱ) deficiency and her parents and to provide the genetic counseling and prenatal diagnosis for the family members. As the proband, a 3-month-old fe...
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| Vydáno v: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
中国当代儿科杂志编辑部
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7403082/ https://ncbi.nlm.nih.gov/pubmed/27974123 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2016.12.017 |
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