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TypeTitleAuthor(s)YearViews
Novel insertion 496_497insG creating a stop codon D194X in a Chinese family with X-Linked adrenoleukodystrophy
Journal:
Hormone Research
Publisher:
S Karger AG. The Journal's web site is located at http://www.karger.com/HRE
Mak, CM; Lam, KSL; Ma, OC; Tso, AWK; Tam, S200596
 
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
Publisher:
Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme
Mak, CM; Lam, KSL; Tan, KCB; Ma, OC; Tam, S2004104
 
A novel insprtion 110_111insG creating a stop codon D194x in a Chinese family with X-linked adrenoleukodystrophy
Proceedings/Conference:
15th Annual Scientific Meeting of Hong Kong Society of Endocrinology, Metabolism and Reproduction, October 2003, Hong Kong
Mak, M; Lam, KSL; Ma, OC; Tso, AWK; Tam, SCF2003123
 
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