Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA

Yi, M., Wang, Y., Gao, X., Han, L., Qiu, W., Gu, X., Maegawa, G. H. B., & Zhang, H. (2022). Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA. Journal of Inherited Metabolic Disease, 45(3), 593–604. Portico. https://doi.org/10.1002/jimd.12491
Authors:
Mengni Yi
Yu Wang
Xiaolan Gao
Lianshu Han
Wenjuan Qiu
Xuefan Gu
Gustavo H. B. Maegawa
Huiwen Zhang
Affiliated Authors:
Gustavo H. B. Maegawa
Author Keywords:
galns variants
mps iva
genotype-phenotype
missense variants
mucopolysaccharidosis iva
genotype–phenotype
Publication Type:
Article
Unique ID:
10.1002/jimd.12491
PMID:
Publication Date:
Data Source:
Scopus

Record Created: