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MeSH:(Cerebroside-Sulfatase/*genetics)

1.Analysis of genetic variant in a patient with juvenile meterochromic leukodystrophy.

Xiao ZHANG ; Miaomiao LI ; Jianhua MA ; Yucui ZANG ; Jingli WANG ; Yinglei XU ; Lu SHEN ; Shiguo LIU

Chinese Journal of Medical Genetics 2022;39(10):1093-1098

2.Identification of a Novel Splicing Mutation in the ARSA Gene in a Patient with Late-infantile Form of Metachromatic Leukodystrophy.

Dong Hee KANG ; Dong Hwan LEE ; Yong Hee HONG ; Seung Tae LEE ; Byung Ryul JEON ; You Kyoung LEE ; Chang Seok KI ; Yong Wha LEE

The Korean Journal of Laboratory Medicine 2010;30(5):516-520

3.Analysis of ARSA mutations in a Chinese family with metachromatic leukodystrophy.

Jing-min WANG ; Yu-wu JIANG ; Hui-ping SHI ; Wei-min ZHANG ; Hong PAN ; Xin-hua BAO ; Ye WU ; Jiong QIN ; Xi-ru WU

Chinese Journal of Medical Genetics 2006;23(4):378-382

4.Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy.

Juan YANG ; Jiqing CAO ; Yaqin LI ; Hui ZHENG ; Jing LI ; Yingyin LIANG ; Zhenhua LIU ; Liqin WANG ; Cheng ZHANG

Chinese Journal of Medical Genetics 2014;31(5):615-618

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