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Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review

Document Type

Article

Author

Wang, S.; Huang, T.; Xu, H.; Ying, G.; Qian, H.; Lin, W.; Tung, Y.; Khan, K.U.; Guo, H.; Zheng, G.; Lu, H.; Zhang, G.; Chen, J.; Zhu, X.

Source

In: BMC Medical Genomics. (BMC Medical Genomics, December 2023, 16(1))

Subject

Language

English

ISSN

17558794

Online Access

EBSCOHost PDF Full Text (ProQuest Central) Full Text (Gale Academic Onefile) Open Access (BioMed Central) Web of Science JCR 저널정보 Scopus Find it@PNU

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