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Volume 2009, Issue
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
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Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
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Oct 2010
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Jan 2011
3
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Feb 2011
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Sep 2011
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Nov 2011
3
1
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Dec 2011
2
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Jan 2012
8
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Feb 2012
13
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2
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Apr 2012
6
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8
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2
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7
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Aug 2012
4
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Sep 2012
3
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Oct 2012
11
1
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Nov 2012
4
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Dec 2012
14
2
0
Jan 2013
11
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0
Feb 2013
22
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0
Mar 2013
13
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Apr 2013
28
5
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May 2013
24
6
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Jun 2013
4
1
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Jul 2013
2
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0
Aug 2013
6
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0
Sep 2013
9
0
0
Oct 2013
1
0
0
Nov 2013
3
0
0
Dec 2013
2
0
0
Jan 2014
2
0
0
Mar 2014
21
1
0
Apr 2014
16
2
0
May 2014
12
1
0
Jun 2014
2
0
0
Jul 2014
4
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0
Aug 2014
4
1
0
Sep 2014
6
3
0
Oct 2014
10
1
0
Nov 2014
11
3
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Dec 2014
4
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Jan 2015
2
1
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Feb 2015
7
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Mar 2015
18
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Apr 2015
12
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May 2015
3
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Jun 2015
1
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Jul 2015
9
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Sep 2015
6
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Oct 2015
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Nov 2015
78
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44
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11
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Sep 2016
9
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Oct 2016
6
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Nov 2016
14
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Dec 2016
5
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Jan 2017
6
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Feb 2017
9
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Mar 2017
9
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Apr 2017
26
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May 2017
16
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Jun 2017
7
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Jul 2017
2
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Aug 2017
7
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Sep 2017
13
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Oct 2017
14
1
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Nov 2017
17
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Dec 2017
27
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Jan 2018
65
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Feb 2018
10
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Mar 2018
13
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Apr 2018
13
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May 2018
19
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Jun 2018
17
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Jul 2018
14
2
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Aug 2018
21
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Sep 2018
27
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Oct 2018
20
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Nov 2018
33
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Dec 2018
8
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Jan 2019
29
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Feb 2019
60
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111
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56
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May 2019
25
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Jun 2019
25
3
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Jul 2019
29
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Aug 2019
27
1
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Sep 2019
19
4
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Oct 2019
47
2
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Nov 2019
41
1
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Dec 2019
46
3
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Jan 2020
19
3
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Feb 2020
7
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4
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Apr 2020
6
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May 2020
17
2
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Jun 2020
19
1
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Jul 2020
16
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Aug 2020
18
4
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Sep 2020
18
0
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Oct 2020
61
1
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Nov 2020
64
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Dec 2020
23
2
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Jan 2021
12
1
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Feb 2021
20
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Mar 2021
28
6
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Apr 2021
12
2
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May 2021
10
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Jun 2021
1
1
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Aug 2021
6
6
0
Oct 2021
19
5
0
Nov 2021
22
3
0
Dec 2021
21
4
0
Jan 2022
20
7
0
Feb 2022
26
6
0
Mar 2022
17
1
0
Apr 2022
21
1
0
May 2022
14
0
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Jun 2022
14
1
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Jul 2022
46
1
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Aug 2022
32
4
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Sep 2022
23
1
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Oct 2022
36
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9
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26
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10
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9
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Mar 2023
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6
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May 2023
8
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10
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Jul 2023
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Aug 2023
4
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Sep 2023
14
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Oct 2023
10
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Nov 2023
9
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28
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Jan 2024
13
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Feb 2024
20
2
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Mar 2024
8
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Total
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