Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the cystic fibrosis transmembrane conductance regulator gene CFTR have empirical evidence that they cause cystic fibrosi...

ver descrição completa

Detalhes bibliográficos
Autor principal: Sosnay, Patrick R. (author)
Outros Autores: Siklosi, Karen R. (author), Van Goor, Fredrick (author), Kaniecki, Kyle (author), Yu, Haihui (author), Sharma, Neeraj (author), Ramalho, Anabela S. (author), Amaral, Margarida D. (author), Dorfman, Ruslan (author), Zielenski, Julian (author), Masica, David L. (author), Karchin, Rachel (author), Millen, Linda (author), Thomas, Philip J. (author), Patrinos, George P. (author), Corey, Mary (author), Lewis, Michelle H. (author), Rommens, Johanna M. (author), Castellani, Carlo (author), Penland, Christopher M. (author), Cutting, Garry R. (author)
Formato: article
Idioma:eng
Publicado em: 2013
Assuntos:
Fibrose Quística
CFTR
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/1742
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/1742

Texto Completo

http://hdl.handle.net/10400.18/1742

Registros relacionados