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A de novo homozygous missense mutation of the GUSB gene lea..:
Du, Runxuan
;
Tian, Haishen
;
Zhao, Bingyi
...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101033 , 2024
Link:
https://doi.org/10.1016/j.ymgmr.2023.101033
RT Journal T1 <Title>A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ymgmr.2023.101033&Exemplar=1&LAN=DE A1 Du, Runxuan A1 Tian, Haishen A1 Zhao, Bingyi A1 Shi, Xuedong A1 Sun, Yanmei A1 Qiu, Bo A1 Li, Yali PB Elsevier BV YR 2024 SN 2214-4269 JF Molecular Genetics and Metabolism Reports VO 38 SP 101033 LK http://dx.doi.org/https://doi.org/10.1016/j.ymgmr.2023.101033 DO https://doi.org/10.1016/j.ymgmr.2023.101033 SF ELIB - SuUB Bremen
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