Article
Novel beta-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts.
American journal of medical genetics. Part A - 1 Jul 2008
Gucev Zoran S, Tasic Velibor, Jancevska Aleksandra, Zafirovski Georgi, Kremensky Ivo, Sinigerska Ivanka, Nanba Eiji, Higaki Katsumi, Gucev Filip, Suzuki Yoshiyuki
Abstract excerpt
The patient is a 24-year-old woman who first came for consultation at age 10 years. Based on clinical phenotype and thin-layer chromatography of urinary oligosaccharides, peripheral leukocytes were sent for beta-galactosidase assay. This testing showed a deficiency in enzyme activity, and gene mutation analysis identified a previously reported mutation p.H281Y (875C > T) and a novel mutation p.W273R (817T > C)....
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