Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder that is both genetically and clinically heterogeneous. To date 19 genes have been associated with BBS, which encode proteins active at the primary cilium, an antenna-like organelle that acts as the cell’s signaling hub. In the current st...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Maria, Maleeha, Lamers, Ideke J. C., Schmidts, Miriam, Ajmal, Muhammad, Jaffar, Sulman, Ullah, Ehsan, Mustafa, Bilal, Ahmad, Shakeel, Nazmutdinova, Katia, Hoskins, Bethan, van Wijk, Erwin, Koster-Kamphuis, Linda, Khan, Muhammad Imran, Beales, Phil L., Cremers, Frans P. M., Roepman, Ronald, Azam, Maleeha, Arts, Heleen H., Qamar, Raheel
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5052523/
https://ncbi.nlm.nih.gov/pubmed/27708425
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep34764
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados