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

Authors :
Yasuyuki Fukuhara
Ai Miura
Narutoshi Yamazaki
Tetsumin So
Motomichi Kosuga
Torayuki Okuyama
Source :
Molecular Genetics and Metabolism. 135:S45
Publication Year :
2022
Publisher :
Elsevier BV, 2022.

Details

ISSN :
10967192
Volume :
135
Database :
OpenAIRE
Journal :
Molecular Genetics and Metabolism
Accession number :
edsair.doi...........3aa90159f9b89037bd4da3c801d4d631
Full Text :
https://doi.org/10.1016/j.ymgme.2021.11.105