Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.

Morrone, Amelia

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