Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type�IIi congenital disorder of glycosylation: A case report-Reference-Cited by-同舟云学术

Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type�IIi congenital disorder of glycosylation: A case report

Published:2019-07-30 Issue: Volume: Page:
ISSN:1792-0981
Container-title:Experimental and Therapeutic Medicine
language:
Short-container-title:Exp Ther Med

Author:

Yin Shaowei¹,Gong Liying²,Qiu Hao³,Zhao Yan⁴,Zhang Yan⁵,Liu Caixia¹,Jiang Hongkun⁶,Mao Yan³,Kong Ling‑Yin³,Liang Bo⁷,Lv Yuan¹

Affiliation:

1. Liaoning Centre for Prenatal Diagnosis, Key Laboratory of Maternal‑Fetal Medicine of Liaoning Province, Shengjing Hospital Affiliated to China Medical University, Shenyang, Liaoning 110004, P.R. China

2. Clinical Laboratory, The People's Hospital of China Medical University, Shenyang, Liaoning 110016, P.R. China

3. Basecare Medical Device Co., Ltd., Suzhou, Jiangsu 215000, P.R. China

4. Genetics Unit, Shenyang Maternity and Infant's Hospital, Shenyang, Liaoning 110004, P.R. China

5. The Outpatient Department of Obstetrics, Shenyang Maternity and Infant's Hospital, Shenyang, Liaoning 110004, P.R. China

6. Department of Pediatrics, The First Affiliated Hospital of China Medical University, Shenyang, Liaoning 110016, P.R. China

7. State Key Laboratory of Microbial Metabolism, Joint International Research Laboratory of Metabolic and Developmental Sciences, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai 200240, P.R. China

Publisher

Spandidos Publications

Subject

Cancer Research,Immunology and Microbiology (miscellaneous),General Medicine

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