Lethal osteogenesis imperfecta type XX caused by compound heterozygous frameshift mutations in MESD

Autor:	Katharina Jaehn-Rickert, Julian Stürznickel, Alfons Kreczy, Katharina Schoner, Thorsten Schinke, Maximilian M. Delsmann, Anna Floriane Hennig, Helga Rehder, Michael Amling, Jozef Zustin, Uwe Kornak
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	Genetics RC925-935 Osteogenesis imperfecta Endocrinology Diabetes and Metabolism medicine Orthopedics and Sports Medicine Diseases of the musculoskeletal system Biology medicine.disease Compound heterozygosity Frameshift mutation
Zdroj:	Bone Reports, Vol 14, Iss, Pp 100851-(2021)
ISSN:	2352-1872
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9dc63af23b912498faa1aa190215ee8 http://www.sciencedirect.com/science/article/pii/S2352187221001066 Zobrazit plný text záznamu