Results 131 to 140 of about 1,678 (140)

Identification of 13 Novel Mutations Including a Retrotransposal Insertion in SLC25A13 Gene and Frequency of 30 Mutations Found in Patients With Citrin Deficiency

Journal of Human Genetics, 2008
Shosei Kishida, Yuan-Zong Song, Mikio Iijima   +2 more
exaly  

Screening of Nine SLC25A13 Mutations: Their Frequency in Patients With Citrin Deficiency and High Carrier Rates in Asian Populations

Molecular Genetics and Metabolism, 2003
Wuh-liang Hwu, Meng Xian Li, Yoshiyuki Okano   +2 more
exaly  

Blood Glucose and Insulin and Correlation of SLC25A13 Mutations With Biochemical Changes in NICCD Patients

Experimental Biology and Medicine, 2017
Ze-Jian Li
exaly  

Novel Mutations in the SLC25A13 Gene in a Patient With NICCD and Severe Manifestations

Journal of Pediatric Endocrinology and Metabolism, 2015
Sainan Shu, Zhihua Huang
exaly  

Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency

Tohoku Journal of Experimental Medicine, 2014
Takeyori Saheki, Shigeo Kure, Atsuo Kikuchi   +2 more
exaly  

Molecular Diagnosis of Pediatric Patients With Citrin Deficiency in China: SLC25A13 Mutation Spectrum and the Geographic Distribution

Scientific Reports, 2016
Wei-Xia Lin, Yuan-Zong Song, Feng-Ping Chen   +2 more
exaly  

Most Common SLC25A13 Mutation in 400 Chinese Infants With Intrahepatic Cholestasis

World Journal of Gastroenterology, 2010
exaly  

Phân Tích Gen SLC25A13 Trong Chẩn Đoán Bệnh Thiếu Hụt Citrin Trên Một Số Trẻ em Nghi Ngờ

Y Hoc Viet Nam
Mai Xuan Dung, Le Thi Phuong, Văn Thạo Tạ   +2 more
exaly  

Mir-509-3p Targets SLC25A13 to Regulate Ferroptosis and Protect Retinal Endothelial Cells in Diabetic Retinopathy

Acta Diabetologica
Jie Luan
exaly  

Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis of SLC25A13 Gene Mutations in Hefei, China

International Journal of Neonatal Screening
Yuhui Wan, Haili Hu, Qingqing Ma
exaly