Carregant...
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family
Bardet–Biedl syndrome (BBS) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity of this condition is reflected in the number of underlying gene defects and the epistatic interactions between the proteins encoded. BBS is generally inherited in an autosomal r...
Guardat en:
| Autors principals: | , , , , , , , , , , |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wiley Periodicals, Inc.
2014
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3960054/ https://ncbi.nlm.nih.gov/pubmed/24689075 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.50 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|