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TypeTitleAuthor(s)YearViews
Novel insertion 496_497insG creating a stop codon D194X in a Chinese family with X-Linked adrenoleukodystrophyMak, CM; Lam, KSL; Ma, OC; Tso, AWK; Tam, S200564
 
Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase geneMak, CM; Lam, KSL; Tan, KCB; Ma, OC; Tam, S200460
 
A novel insprtion 110_111insG creating a stop codon D194x in a Chinese family with X-linked adrenoleukodystrophyMak, M; Lam, KSL; Ma, OC; Tso, AWK; Tam, SCF200370
 
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