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Pathogenic variants of the GNAS gene introduce an abnormal ..:
Ohata, Yasuhisa
;
Kakimoto, Haruna
;
Seki, Yuko
...
Bone Reports. 17 (2022) - p. 101637 , 2022
Link:
https://doi.org/10.1016/j.bonr.2022.101637
RT Journal T1
Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.bonr.2022.101637&Exemplar=1&LAN=DE A1 Ohata, Yasuhisa A1 Kakimoto, Haruna A1 Seki, Yuko A1 Ishihara, Yasuki A1 Nakano, Yukako A1 Yamamoto, Kenichi A1 Takeyari, Shinji A1 Fujiwara, Makoto A1 Kitaoka, Taichi A1 Takakuwa, Satoshi A1 Kubota, Takuo A1 Ozono, Keiichi PB Elsevier BV YR 2022 SN 2352-1872 JF Bone Reports VO 17 SP 101637 LK http://dx.doi.org/https://doi.org/10.1016/j.bonr.2022.101637 DO https://doi.org/10.1016/j.bonr.2022.101637 SF ELIB - SuUB Bremen
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