A novel FUCA1 mutation causing fucosidosis in a Chinese boy

J Inherit Metab Dis. 2002 Sep;25(5):415-6. doi: 10.1023/a:1020116220624.

Authors

P Ip¹, W Goh, K W Chan, P T Cheung

Affiliation

¹ Department of Paediatrics, Queen Mary Hospital, The University of Hong Kong, China.

PMID: 12408193
DOI: 10.1023/a:1020116220624

Abstract

We report a 6-year-old boy with an intermediate form of fucosidosis.

Publication types

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

MeSH terms

Base Sequence
Child
Codon, Nonsense
Fucosidosis / genetics*
Humans
Male
Polymerase Chain Reaction
alpha-L-Fucosidase / genetics

Substances

Codon, Nonsense
alpha-L-Fucosidase