Molecular basis of mucopolysaccharidosis IVA in a large cohort: genotype-phenotype correlations and reporting of 12 novel GALNS variants.
Xi Yin
Yi-Qi Qin
Xue-Ying Su
Qian-Qian Deng
Cheng-Xi Li
Xiao-Yuan Zhao
C. Zeng
Cui-Li Liang
Yan-Na Cai
Y. Shao
Yong-Lan Huang
Li Liu
Wen Zhang
Medicine