Open AccessMutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype
Author(s) -
M.R. Knowles,
L.E. Ostrowski,
M.W. Leigh,
P.R. Sears,
S.D. Davis,
W.E. Wolf,
M.J. Hazucha,
J.L. Carson,
K.N. Olivier,
S.D. Sagel,
M. Rosenfeld,
T.W. Ferkol,
S.D. Dell,
C.E. Milla,
S.H. Randell,
W. Yin,
A. Sannuti,
H.M. Metjian,
P.G. Noone,
P.J. Noone,
C.A. Olson,
M.V. Patrone,
H. Dang,
H.-S. Lee,
T.W. Hurd,
H.Y. Gee,
E.A. Otto,
J. Halbritter,
S. Kohl,
M. Kircher,
J. Krischer,
M.J. Bamshad,
D.A. Nickerson,
F. Hildebrandt,
J. Shendure,
M.A. Zariwala
Publication year - 2014
Publication title -
carolina digital repository (university of north carolina at chapel hill)
Language(s) - English
DOI - 10.17615/tghp-rn94
Subject(s) - primary ciliary dyskinesia , phenotype , cilium , genetics , mutation , dyskinesia , biology , medicine , ophthalmology , gene , disease , bronchiectasis , parkinson's disease , lung