Showing results 2 to 4 of 4
< previous
Title | Author(s) | Issue Date | |
---|---|---|---|
Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene Journal:Molecular Genetics and Metabolism | 2004 | ||
2005 | |||
A novel insprtion 110_111insG creating a stop codon D194x in a Chinese family with X-linked adrenoleukodystrophy Proceeding/Conference:20th Anniversary (1983-2003) & HKSEMR 2003 Annual Scientific Meeting | 2003 |