Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation: A case report of a novel COL10A1 mutation

Autor:	Julia V, Woelfle, R E, Brenner, B, Zabel, H, Reichel, M, Nelitz
Rok vydání:	2009
Předmět:	Adult Male Time Factors Codon Nonsense DNA Mutational Analysis Humans Infant Female DNA Osteochondrodysplasias Collagen Type X Follow-Up Studies Pedigree
Zdroj:	Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association. 16(2)
ISSN:	1436-2023
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::7e61221bd1f806aca0fce389366719c6 https://pubmed.ncbi.nlm.nih.gov/21360259 Zobrazit plný text záznamu Full text from SpringerLink