A carregar...

Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a rare hereditary bone fragility disorder, caused by collagen I mutations in 90% of cases. There are no comprehensive genotype–phenotype studies on >100 families outside North America, and no population-based studies determining the genetic epidemiology of OI. Here...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Lindahl, Katarina, Åström, Eva, Rubin, Carl-Johan, Grigelioniene, Giedre, Malmgren, Barbro, Ljunggren, Östen, Kindmark, Andreas
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795106/
https://ncbi.nlm.nih.gov/pubmed/25944380
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.81
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!