A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase

A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase

We previously showed that the genotype-phenotype correlation in MPS II is well-conserved in Japan (Kosuga et al., 2016). Almost all of our patients with attenuated MPS II have missense variants, which is expected to result in residual activity of iduronate-2-sulfatase. In contrast, our patients with...

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Bibliographic Details
Main Authors: Yasuyuki Fukuhara, Ai Miura, Narutoshi Yamazaki, Tetsumin So, Motomichi Kosuga, Kumiko Yanagi, Tadashi Kaname, Takanori Yamagata, Hitoshi Sakuraba, Torayuki Okuyama
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mucopolysaccharidosis type II
c DNA analysis
Splice variants
Signal peptide
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920301385

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http://www.sciencedirect.com/science/article/pii/S2214426920301385

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