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...

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Bibliographic Details
Main Author: Sosnay, Patrick R. (author)
Other Authors: 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)
Format: article
Language:eng
Published: 2013
Subjects:
Fibrose Quística
CFTR
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/1742
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/1742

Internet

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

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