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Publication details

Document type
Journal articles

Document subtype
Full paper

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

Participants in the publication
Patrick R Sosnay (Author)
Karen R Siklosi (Author)
Fredrick Van Goor (Author)
Kyle Kaniecki (Author)
Haihui Yu (Author)
Neeraj Sharma (Author)
Anabela S Ramalho (Author)
Margarida D Amaral (Author)
Dep. Química e Bioquímica
BIOISI - Instituto de Biossistemas e Ciências Integrativas
Ruslan Dorfman (Author)
Julian Zielenski (Author)
David L Masica (Author)
Rachel Karchin (Author)
Linda Millen (Author)
Philip J Thomas (Author)
George P Patrinos (Author)
Mary Corey (Author)
Michelle H Lewis (Author)
Johanna M Rommens (Author)
Carlo Castellani (Author)
Christopher M Penland (Author)
Garry R Cutting (Author)

Date of Publication
2013-08-25

Where published
Nature Genetics

Publication Identifiers

Publisher
Springer Science and Business Media LLC

Volume
45
Number
10

Number of pages
7
Starting page
1160
Last page
1167

Document Identifiers
DOI - https://doi.org/10.1038/ng.2745
URL - http://dx.doi.org/10.1038/ng.2745


Export

APA
Patrick R Sosnay, Karen R Siklosi, Fredrick Van Goor, Kyle Kaniecki, Haihui Yu, Neeraj Sharma, Anabela S Ramalho, Margarida D Amaral, Ruslan Dorfman, Julian Zielenski, David L Masica, Rachel Karchin, Linda Millen, Philip J Thomas, George P Patrinos, Mary Corey, Michelle H Lewis, Johanna M Rommens, Carlo Castellani, Christopher M Penland, Garry R Cutting, (2013). Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nature Genetics, 45, 1160-1167. http://dx.doi.org/10.1038/ng.2745

IEEE
Patrick R Sosnay, Karen R Siklosi, Fredrick Van Goor, Kyle Kaniecki, Haihui Yu, Neeraj Sharma, Anabela S Ramalho, Margarida D Amaral, Ruslan Dorfman, Julian Zielenski, David L Masica, Rachel Karchin, Linda Millen, Philip J Thomas, George P Patrinos, Mary Corey, Michelle H Lewis, Johanna M Rommens, Carlo Castellani, Christopher M Penland, Garry R Cutting, "Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene" in Nature Genetics, vol. 45, pp. 1160-1167, 2013. 10.1038/ng.2745

BIBTEX
@article{49371, author = {Patrick R Sosnay and Karen R Siklosi and Fredrick Van Goor and Kyle Kaniecki and Haihui Yu and Neeraj Sharma and Anabela S Ramalho and Margarida D Amaral and Ruslan Dorfman and Julian Zielenski and David L Masica and Rachel Karchin and Linda Millen and Philip J Thomas and George P Patrinos and Mary Corey and Michelle H Lewis and Johanna M Rommens and Carlo Castellani and Christopher M Penland and Garry R Cutting}, title = {Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene}, journal = {Nature Genetics}, year = 2013, pages = {1160-1167}, volume = 45 }