Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease)

Hum Mutat. 1995;6(2):195-6. doi: 10.1002/humu.1380060218.

Authors

S Tomatsu¹, S Fukuda, A Cooper, J E Wraith, N Yamada, K Isogai, Z Kato, K Sukegawa, N Kondo, Y Suzuki, et al.

Affiliation

¹ Department of Pediatrics, Gifu University School of Medicine, Japan.

PMID: 7581409
DOI: 10.1002/humu.1380060218

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Chromosome Mapping
Exons
Humans
Molecular Sequence Data
Mucopolysaccharidosis IV / genetics*
Mutation*
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
White People / genetics