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Proceedings of the National Academy of Sciences of the United States of America|August 1, 2002
A strong signature of balancing selection in the 5' cis-regulatory region of CCR5Michael J Bamshad, Srinivas Mummidi, Enrique Gonzalez, et al.
Frontiers in Cell and Developmental Biology|July 3, 2023
Promising AAV.U7snRNAs vectors targeting DMPK improve DM1 hallmarks in patient-derived cell linesCamila F Almeida, Florence Robriquet, Tatyana A Vetter, et al.
Human Antibodies|November 29, 2013
Developing and mature human granulocytes express ELP 6 in the cytoplasmLori A Wagner, Shuping Wang, Elizabeth A Wayner, et al.
Human Mutation|September 17, 2013
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathiesRussell J Butterfield, A Reghan Foley, Jahannaz Dastgir, et al.
Genomics|July 21, 2010
Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotypingJinchuan Xing, W Scott Watkins, Adam Shlien, et al.
European Journal of Human Genetics : EJHG|March 20, 2023
A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severityKevin M Flanigan, Megan A Waldrop, Paul T Martin, et al.
Molecular Therapy. Methods & Clinical Development|August 11, 2022
Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouseNicolas Wein, Tatyana A Vetter, Adeline Vulin, et al.
The American Journal of Psychiatry|June 1, 2012
Interplay of genetic risk factors (CHRNA5-CHRNA3-CHRNB4) and cessation treatments in smoking cessation successLi-Shiun Chen, Timothy B Baker, Megan E Piper, et al.
Neuromuscular Disorders : NMD|October 2, 2009
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophyKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, et al.
Skeletal Muscle|August 10, 2020
X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisationInès Barthélémy, Nadège Calmels, Robert B Weiss, et al.
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