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MeSH:(Acetyltransferases/genetics*)

1.Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene.

Jing CHEN ; Guanglei TONG ; Yuchen WANG ; Fuling YE ; Lei SHI ; Hong LI

Chinese Journal of Medical Genetics 2022;39(12):1370-1374

2.MBOAT1 homozygous missense variant causes nonobstructive azoospermia.

Yang-Yang WAN ; Lan GUO ; Yao YAO ; Xiao-Yun SHI ; Hui JIANG ; Bo XU ; Juan HUA ; Xian-Sheng ZHANG

Asian Journal of Andrology 2022;24(2):186-190

3.Analysis of a child with mental retardation due to a de novo variant of the KAT6A gene.

Zengguo REN ; Xingxing LEI ; Mei ZENG ; Ke YANG ; Qiannan GUO ; Shujie YU ; Guiyu LOU ; Bing ZHANG ; Li WANG

Chinese Journal of Medical Genetics 2022;39(12):1385-1389

4.Genetic Variants in the ELOVL5 but not ELOVL2 Gene Associated with Polyunsaturated Fatty Acids in Han Chinese Breast Milk.

Xiang LI ; Zhen Wei GAN ; Zhen DING ; Yi Xia WU ; Xue Yan CHEN ; Hui Min TIAN ; Guo Liang LIU ; Ye Tong YANG ; Lin XIE

Biomedical and Environmental Sciences 2017;30(1):64-67

5.Transgenesis of Drosophila melanogaster with an Elovl5 gene enables the production of longer-chain fatty acids.

Lanchen WANG ; Qinmin TANG ; Yufeng HE ; Ying WANG ; Shisai YANG ; Guiming ZHU

Chinese Journal of Biotechnology 2020;36(10):2171-2180

7.Expression of a recombinant branched chain alpha-oxo acid dehydrogenase complex E2 (BCOADC-E2) in insect cells and its immunoreactivity to autoimmune sera.

Sang Mi LEE ; Soon Hee KO ; Jeong Eu PARK ; Sang Hoon CHA

Experimental & Molecular Medicine 1998;30(2):65-71

8.Construction of adenovirus vector expressing TIP30 and its tumor suppressive effect in vitro and in vivo.

Xia ZHANG ; Jian ZHAO ; Xiao-dong LI ; Chang-ting YUAN ; Hua-qing WANG ; Meng-chao WU ; Hua XIAO ; Ya-jun GUO

Chinese Journal of Oncology 2004;26(2):85-88

9.Identification of a novel missense variant of the KAT6B gene in a child with Say-Barber-Biesecker-Young-Simpson syndrome.

Ruohao WU ; Wenting TANG ; Kunyin QIU ; Yu LI ; Zhanwen HE

Chinese Journal of Medical Genetics 2021;38(6):561-564

10.Expression and amplification of steroid receptor coactivator-3 gene in colorectal carcinoma and its clinicopathological significance.

Sui-de ZENG ; Dan XIE ; Feng LIN ; Chang-xi WANG ; Yu TAO ; Meng ZHANG

Chinese Journal of Gastrointestinal Surgery 2005;8(1):67-70

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