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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Dettagli Bibliografici
Pubblicato in:Mol Genet Metab Rep
Autori principali: Fukuhara, Yasuyuki, Miura, Ai, Yamazaki, Narutoshi, So, Tetsumin, Kosuga, Motomichi, Yanagi, Kumiko, Kaname, Tadashi, Yamagata, Takanori, Sakuraba, Hitoshi, Okuyama, Torayuki
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2020
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7734304/
https://ncbi.nlm.nih.gov/pubmed/33335838
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100692
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