A 66-Basepair insertion in Exon 6 of the α-L-fucosidase gene of a fucosidosis patient;
- 1 January 1996
- journal article
- mutation note
- Published by Hindawi Limited in Human Mutation
- Vol. 7 (2) , 183
- https://doi.org/10.1002/humu.1380070203
Abstract
No abstract availableThis publication has 3 references indexed in Scilit:
- Fucosidosis: four new mutations and a new polymorphismHuman Molecular Genetics, 1993
- A mutation generating a stop codon in the α-L-fucosidase gene of a fucosidosis patientBiochemical and Biophysical Research Communications, 1992
- Defective expression of α-L-fucosidase by lymphoid cells of a fucosidosis patientClinical Biochemistry, 1991