A Deep Intronic, Pathogenic Variant in
DNAH11
Causes Primary Ciliary Dyskinesia
Am J Respir Cell Mol Biol
.
2022 Oct;67(4):511-514.
doi: 10.1165/rcmb.2022-0176LE.
Authors
Adam J Shapiro
1
,
Jaclyn R Stonebraker
2
,
Michael R Knowles
2
,
Maimoona A Zariwala
2
Affiliations
1
McGill University Health Centre Research Institute Montreal, Quebec, Canada.
2
University of North Carolina School of Medicine Chapel Hill, North Carolina.
PMID:
36178856
PMCID:
PMC9648669
DOI:
10.1165/rcmb.2022-0176LE
No abstract available
Publication types
Letter
Research Support, N.I.H., Extramural
MeSH terms
Axonemal Dyneins*
Cilia
Humans
Kartagener Syndrome*
Mutation / genetics
Substances
Axonemal Dyneins
DNAH11 protein, human
Grants and funding
UM1 HG006504/HG/NHGRI NIH HHS/United States
U2C TR002818/TR/NCATS NIH HHS/United States
U54 HL096458/HL/NHLBI NIH HHS/United States
R01HL071798/NH/NIH HHS/United States
R01 HL071798/HL/NHLBI NIH HHS/United States
U24 HG008956/HG/NHGRI NIH HHS/United States