Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Amélie de La Seiglière"'
Autor:
Léa Loisay, Davide Komla-Ebri, Anne Morice, Yann Heuzé, Camille Viaut, Amélie de La Seiglière, Nabil Kaci, Danny Chan, Audrey Lamouroux, Geneviève Baujat, J.H. Duncan Bassett, Graham R. Williams, Laurence Legeai-Mallet
Publikováno v:
JCI Insight, Vol 8, Iss 12 (2023)
Hypochondroplasia (HCH) is a mild dwarfism caused by missense mutations in fibroblast growth factor receptor 3 (FGFR3), with the majority of cases resulting from a heterozygous p.Asn540Lys gain-of-function mutation. Here, we report the generation and
Externí odkaz:
https://doaj.org/article/70bb70a6bcf54661b19f721ef10cd021
Publikováno v:
Bone Reports. 16:101195
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e225fc0f3dddac83a39223d0ae3dd62f
https://doi.org/10.1016/j.bonr.2022.101195
https://doi.org/10.1016/j.bonr.2022.101195