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Volume 44, Issue 3
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
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Original article
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
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Online download statistics by month: October 2006 to March 2024
Abstract
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Oct 2006
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Jan 2007
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34
Feb 2007
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Mar 2007
42
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Apr 2007
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May 2007
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19
13
Jun 2007
17
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18
Jul 2007
8
16
10
Aug 2007
13
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11
Sep 2007
10
7
18
Oct 2007
10
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8
Nov 2007
12
11
8
Dec 2007
8
19
6
Jan 2008
16
11
10
Feb 2008
4
5
7
Mar 2008
18
18
14
Apr 2008
5
24
11
May 2008
5
13
7
Jun 2008
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7
Jul 2008
7
16
7
Aug 2008
22
8
11
Sep 2008
16
5
7
Oct 2008
10
6
3
Nov 2008
8
12
7
Dec 2008
8
7
5
Jan 2009
11
10
10
Feb 2009
14
7
5
Mar 2009
27
3
1
Apr 2009
18
6
3
May 2009
10
7
9
Jun 2009
15
13
12
Jul 2009
15
5
1
Aug 2009
7
5
5
Sep 2009
5
6
3
Oct 2009
11
8
3
Nov 2009
11
7
6
Dec 2009
27
0
0
Jan 2010
15
8
6
Feb 2010
23
11
12
Mar 2010
9
5
1
Apr 2010
15
2
0
May 2010
36
6
5
Jun 2010
4
6
7
Jul 2010
22
4
4
Aug 2010
29
5
2
Sep 2010
41
5
3
Oct 2010
38
16
11
Nov 2010
29
17
4
Dec 2010
14
10
2
Jan 2011
25
11
0
Feb 2011
22
12
4
Mar 2011
17
11
2
Apr 2011
11
2
0
May 2011
14
3
0
Jun 2011
19
0
1
Jul 2011
20
5
4
Aug 2011
16
4
6
Sep 2011
16
6
2
Oct 2011
17
5
1
Nov 2011
25
2
0
Dec 2011
30
5
2
Jan 2012
26
7
3
Feb 2012
18
6
2
Mar 2012
43
7
2
Apr 2012
17
6
2
May 2012
25
15
5
Jun 2012
27
4
2
Jul 2012
12
3
2
Aug 2012
15
8
1
Sep 2012
24
5
3
Oct 2012
24
8
0
Nov 2012
24
6
1
Dec 2012
17
2
2
Jan 2013
17
3
2
Feb 2013
18
0
2
Mar 2013
30
6
5
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24
1
2
May 2013
21
7
1
Jun 2013
8
3
5
Jul 2013
12
3
2
Aug 2013
3
2
1
Sep 2013
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Oct 2013
7
5
8
Nov 2013
7
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2
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Jan 2014
7
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3
Feb 2014
6
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18
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1
Apr 2014
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5
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Jun 2014
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1
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Oct 2014
8
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4
Nov 2014
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2
Dec 2014
9
5
3
Jan 2015
3
1
1
Feb 2015
11
1
2
Mar 2015
11
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0
Apr 2015
17
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5
May 2015
4
2
0
Jun 2015
6
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1
Jul 2015
11
5
2
Aug 2015
7
2
0
Sep 2015
22
3
1
Oct 2015
20
1
7
Nov 2015
9
1
1
Dec 2015
11
3
1
Jan 2016
14
8
1
Feb 2016
5
6
1
Mar 2016
15
2
3
Apr 2016
9
9
4
May 2016
5
2
0
Jun 2016
14
3
0
Jul 2016
18
3
3
Aug 2016
15
0
1
Sep 2016
19
0
0
Oct 2016
18
0
0
Nov 2016
21
1
4
Dec 2016
15
1
2
Jan 2017
16
4
3
Feb 2017
11
1
1
Mar 2017
17
1
0
Apr 2017
14
1
2
May 2017
21
5
2
Jun 2017
31
8
6
Jul 2017
20
0
0
Aug 2017
41
6
9
Sep 2017
54
1
0
Oct 2017
38
3
0
Nov 2017
42
1
1
Dec 2017
44
1
2
Jan 2018
75
1
0
Feb 2018
32
1
0
Mar 2018
55
2
2
Apr 2018
31
0
0
May 2018
36
1
2
Jun 2018
30
0
0
Jul 2018
45
2
1
Aug 2018
42
3
1
Sep 2018
46
2
2
Oct 2018
45
2
4
Nov 2018
45
1
2
Dec 2018
54
2
1
Jan 2019
40
3
3
Feb 2019
36
2
2
Mar 2019
30
4
0
Apr 2019
17
1
0
May 2019
39
11
4
Jun 2019
24
4
2
Jul 2019
29
5
2
Aug 2019
26
2
4
Sep 2019
16
2
3
Oct 2019
29
2
1
Nov 2019
21
1
0
Dec 2019
35
2
0
Jan 2020
35
3
2
Feb 2020
28
1
0
Mar 2020
21
3
0
Apr 2020
26
0
1
May 2020
65
3
1
Jun 2020
46
0
1
Jul 2020
148
0
0
Aug 2020
25
1
0
Sep 2020
30
4
0
Oct 2020
26
5
2
Nov 2020
45
3
3
Dec 2020
52
7
4
Jan 2021
35
2
1
Feb 2021
37
3
0
Mar 2021
54
5
7
Apr 2021
27
4
1
May 2021
24
2
3
Jun 2021
2
0
0
Jul 2021
1
1
0
Aug 2021
4
5
1
Sep 2021
2
2
0
Oct 2021
33
13
4
Nov 2021
17
3
4
Dec 2021
36
4
3
Jan 2022
24
3
1
Feb 2022
33
2
2
Mar 2022
57
2
2
Apr 2022
30
4
3
May 2022
63
3
2
Jun 2022
107
6
0
Jul 2022
26
7
5
Aug 2022
91
9
2
Sep 2022
72
5
0
Oct 2022
75
9
1
Nov 2022
57
3
0
Dec 2022
46
2
1
Jan 2023
54
2
3
Feb 2023
62
2
1
Mar 2023
131
4
2
Apr 2023
46
3
3
May 2023
51
2
0
Jun 2023
25
1
1
Jul 2023
55
6
1
Aug 2023
34
7
2
Sep 2023
67
3
0
Oct 2023
97
5
4
Nov 2023
207
4
1
Dec 2023
99
3
6
Jan 2024
70
3
20
Feb 2024
34
1
1
Mar 2024
47
4
0
Total
5705
981
774
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