Cargando...

Functional Analysis of RUNX2 Mutations in Japanese Patients with Cleidocranial Dysplasia Demonstrates Novel Genotype-Phenotype Correlations

Cleidocranial dysplasia (CCD) is an autosomal dominant heritable skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor RUNX2. We have performed mutational analysis of RUNX2 on 24 unrelated patients with CCD. In 17 patients, 16 distinct mutations were detec...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Yoshida, Taketoshi, Kanegane, Hirokazu, Osato, Motomi, Yanagida, Masatoshi, Miyawaki, Toshio, Ito, Yoshiaki, Shigesada, Katsuya
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2002
Materias:
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC378531/
https://ncbi.nlm.nih.gov/pubmed/12196916
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!