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1 Ergebnisse
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Long‐term observation of a Japanese mucolipidosis IV patien..:
Hayashi, Takaaki
;
Hosono, Katsuhiro
;
Kubo, Akiko
...
American Journal of Medical Genetics Part A. 182 (2020) 6 - p. 1500-1505 , 2020
Link:
https://doi.org/10.1002/ajmg.a.61575
RT Journal T1 <Title>Long‐term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.61575&Exemplar=1&LAN=DE A1 Hayashi, Takaaki A1 Hosono, Katsuhiro A1 Kubo, Akiko A1 Kurata, Kentaro A1 Katagiri, Satoshi A1 Mizobuchi, Kei A1 Kurai, Minehiro A1 Mamiya, Norihito A1 Kondo, Mineo A1 Tachibana, Toshiaki A1 Saitsu, Hirotomo A1 Ogata, Tsutomu A1 Nakano, Tadashi A1 Hotta, Yoshihiro PB Wiley YR 2020 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 182 IS 6 SP 1500 OP 1505 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.61575 DO https://doi.org/10.1002/ajmg.a.61575 SF ELIB - SuUB Bremen
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