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Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

2004/11/03 by Eveliina Jakkula, Outi Mäkitie, Malwina Czarny‐Ratajczak +11 · 27 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Cell Adhesion Molecules Research #Connective tissue disorders research #Dysplasia #Gene #Genetic heterogeneity #Genetics #Mutation #Mutation testing #Osteochondrodysplasia #Phenotype #Ubiquitin and proteasome pathways

paper · pdf · doi:10.1038/sj.ejhg.5201314

published in European Journal of Human Genetics 13(3), 292-301 (Springer Science and Business Media LLC)

crossref issued 2004/11/03 · crossref published 2004/11/03 · crossref published-online 2004/11/03 · openalex publication_date 2004/11/03 · crossref created 2004/11/03 · crossref published-print 2005/03/01 · crossref deposited 2024/01/14 · openalex created_date 2025/10/10 · crossref indexed 2026/05/15 · openalex updated_date 2026/08/04

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