Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere sho...
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
About this item
Full title
Author / Creator
Stuart, Bridget D , Choi, Jungmin , Zaidi, Samir , Xing, Chao , Holohan, Brody , Chen, Rui , Choi, Mihwa , Dharwadkar, Pooja , Torres, Fernando , Girod, Carlos E , Weissler, Jonathan , Fitzgerald, John , Kershaw, Corey , Klesney-Tait, Julia , Mageto, Yolanda , Shay, Jerry W , Ji, Weizhen , Bilguvar, Kaya , Mane, Shrikant , Lifton, Richard P and Garcia, Christine Kim
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Christine Garcia and colleagues use exome sequencing to identify genetic risk factors for familial pulmonary fibrosis. They observe an excess of rare damaging variants in
PARN
and
RTEL1
in probands with pulmonary fibrosis and show that these variants cosegregate with disease in the affected families.
Idiopathic pulmonary fibrosis (IP...
Alternative Titles
Full title
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
Authors, Artists and Contributors
Author / Creator
Choi, Jungmin
Zaidi, Samir
Xing, Chao
Holohan, Brody
Chen, Rui
Choi, Mihwa
Dharwadkar, Pooja
Torres, Fernando
Girod, Carlos E
Weissler, Jonathan
Fitzgerald, John
Kershaw, Corey
Klesney-Tait, Julia
Mageto, Yolanda
Shay, Jerry W
Ji, Weizhen
Bilguvar, Kaya
Mane, Shrikant
Lifton, Richard P
Garcia, Christine Kim
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4414891
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4414891
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3278
