Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.
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| Title: | Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review. |
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| Authors: | Guo Z; The Institute of Human Nutrition, College of Public Health, Qingdao University, Ning Xia Road 308, Qingdao, 266071, Shandong, China., Gong A; Neonatal Screening Center, Maternal and Child Health Hospital of Xiangyang, Xiangyang, China., Liu S; Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, China. liushiguo2002@126.com.; Department of Medical Genetics, The Affiliated Hospital of Qingdao University, Jiangsu Road 16, Qingdao, 266000, China. liushiguo2002@126.com., Liang H; The Institute of Human Nutrition, College of Public Health, Qingdao University, Ning Xia Road 308, Qingdao, 266071, Shandong, China. qdlianghui@126.com. |
| Source: | Molecular genetics and genomics : MGG [Mol Genet Genomics] 2023 May; Vol. 298 (3), pp. 603-614. Date of Electronic Publication: 2023 Mar 11. |
| Publication Type: | Review; Journal Article |
| Journal Info: | Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1617-4623 (Electronic) Linking ISSN: 16174623 NLM ISO Abbreviation: Mol Genet Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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