Author:
Viakhireva I.,Bychkov I.,Markova T.,Shatokhina O.,Karandasheva K.,Udalova V.,Bekhtereva Y.,Ryzhkova O.,Skoblov M.
Funder
Ministry of Education and Science of the Russian Federation
Reference28 articles.
1. M. S, E. H, M.-B. I, и Z. B, «Distribution of type I and type II collagen gene expression during the development of human long bones», Bone, т. 11, вып. 4, 1990, doi: https://doi.org/10.1016/8756-3282(90)90080-i.
2. H. Deng, X. Huang, И L. Yuan, «Molecular genetics of the COL2A1-related disorders», Mutat. Res. Rev. Mutat. Res., т. 768, сс. 1–13, 2016, doi: https://doi.org/10.1016/j.mrrev.2016.02.003.
3. «Clinical Synopsis Table - #132450, #619248, #200610, #608805, #609162, #156550, #150600, #604864, #151210, #183900, #184250, #616583, #271700, #108300, #609508 - OMIM». Просмотрено: 25 февраль 2023 г. [Онлайн]. Доступно на: https://omim.org/clinicalSynopsis/table?mimNumber=132450,619248,200610,608805,609162,156550,150600,604864,151210,183900,184250,616583,271700,108300,609508.
4. «Nosology and classification of genetic skeletal disorders: 2019 revision - Mortier - 2019 - American Journal of Medical Genetics Part A - Wiley Online Library». Просмотрено: 22 февраль 2023 г. [Онлайн]. Доступно на: https://doi.org/10.1002/ajmg.a.61366.
5. M. Barat-Houari и др., «Mutation update for COL2A1 gene variants associated with type II Collagenopathies», Hum. Mutat., т. 37, вып. 1, сс. 7–15, янв. 2016, doi: https://doi.org/10.1002/humu.22915.