Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database. [electronic resource]
- Human mutation Nov 2014
- 1271-9 p. digital
Publication Type: Journal Article; Review
1098-1004
10.1002/humu.22635 doi
Alleles Animals Biomarkers Chondroitinsulfatases--genetics Databases, Nucleic Acid Disease Models, Animal Gene Frequency Genetic Association Studies Genotype Geography Humans Infant, Newborn Mucopolysaccharidosis IV--diagnosis Mutation Neonatal Screening Phenotype Quantitative Trait Loci