Long-term observation of a Japanese mucolipidosis IV...

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American Journal of Medical Genetics Part A 2020 / 03

Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1

Hayashi, Takaaki, Hosono, Katsuhiro, Kubo, Akiko, Kurata, Kentaro, Katagiri, Satoshi, Mizobuchi, Kei, Kurai, Minehiro, Mamiya, Norihito, Kondo, Mineo, Tachibana, Toshiaki, Saitsu, Hirotomo, Ogata, Tsu
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Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61575
Date:
March, 2020
File:
PDF, 1.70 MB
2020
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