O58: High-resolution haplotyping of PAH gene enables early gestation noninvasive prenatal diagnosis of phenylketonuria and evolution analysis of recurrent pathogenic variations
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425006661 |
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| _version_ | 1850139536113270784 |
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| author | Jingqi Zhu Xiangdong Kong Jingqi Zhu Xinyu Fu Huanyun Li |
| author_facet | Jingqi Zhu Xiangdong Kong Jingqi Zhu Xinyu Fu Huanyun Li |
| author_sort | Jingqi Zhu |
| collection | DOAJ |
| format | Article |
| id | doaj-art-e386d5a75d7d4ea29a7f9c58ba7c6aa3 |
| institution | OA Journals |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-e386d5a75d7d4ea29a7f9c58ba7c6aa32025-08-20T02:30:14ZengElsevierGenetics in Medicine Open2949-77442025-01-01310262710.1016/j.gimo.2025.102627O58: High-resolution haplotyping of PAH gene enables early gestation noninvasive prenatal diagnosis of phenylketonuria and evolution analysis of recurrent pathogenic variationsJingqi Zhu0Xiangdong Kong1Jingqi Zhu2Xinyu Fu3Huanyun Li4Genetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaGenetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaGenetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaGenetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaGenetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Chinahttp://www.sciencedirect.com/science/article/pii/S2949774425006661 |
| spellingShingle | Jingqi Zhu Xiangdong Kong Jingqi Zhu Xinyu Fu Huanyun Li O58: High-resolution haplotyping of PAH gene enables early gestation noninvasive prenatal diagnosis of phenylketonuria and evolution analysis of recurrent pathogenic variations Genetics in Medicine Open |
| title | O58: High-resolution haplotyping of PAH gene enables early gestation noninvasive prenatal diagnosis of phenylketonuria and evolution analysis of recurrent pathogenic variations |
| title_full | O58: High-resolution haplotyping of PAH gene enables early gestation noninvasive prenatal diagnosis of phenylketonuria and evolution analysis of recurrent pathogenic variations |
| title_fullStr | O58: High-resolution haplotyping of PAH gene enables early gestation noninvasive prenatal diagnosis of phenylketonuria and evolution analysis of recurrent pathogenic variations |
| title_full_unstemmed | O58: High-resolution haplotyping of PAH gene enables early gestation noninvasive prenatal diagnosis of phenylketonuria and evolution analysis of recurrent pathogenic variations |
| title_short | O58: High-resolution haplotyping of PAH gene enables early gestation noninvasive prenatal diagnosis of phenylketonuria and evolution analysis of recurrent pathogenic variations |
| title_sort | o58 high resolution haplotyping of pah gene enables early gestation noninvasive prenatal diagnosis of phenylketonuria and evolution analysis of recurrent pathogenic variations |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425006661 |
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