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Volume 38, Issue 2
Homozygosity for a splice site mutation of the COL1A2gene yields a non-functional proα2(I) chain and an EDS/OI clinical phenotype
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Homozygosity for a splice site mutation of the
COL1A2
gene yields a non-functional proα2(I) chain and an EDS/OI clinical phenotype
Online download statistics by month:
Online download statistics by month: February 2001 to September 2024
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Jan 2004
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Feb 2004
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3
Mar 2004
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Apr 2004
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10
May 2004
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39
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Jun 2004
0
52
3
Jul 2004
0
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Aug 2004
0
74
4
Sep 2004
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66
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Oct 2004
9
26
11
Nov 2004
7
18
8
Dec 2004
7
20
7
Jan 2005
7
20
4
Feb 2005
5
23
4
Mar 2005
5
21
8
Apr 2005
0
3
1
May 2005
2
10
5
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10
5
Jul 2005
1
7
3
Aug 2005
2
10
12
Sep 2005
2
10
3
Oct 2005
0
11
1
Nov 2005
0
15
2
Dec 2005
1
12
0
Jan 2006
2
12
4
Feb 2006
1
13
4
Mar 2006
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10
2
Apr 2006
4
9
4
May 2006
1
7
7
Jun 2006
2
12
6
Jul 2006
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9
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3
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Sep 2006
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6
2
Oct 2006
1
10
1
Nov 2006
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10
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7
1
Jan 2007
1
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2
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2
May 2007
2
4
2
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2
Jul 2007
2
3
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3
Nov 2007
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3
6
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2
Jan 2008
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3
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6
4
Apr 2008
3
1
1
May 2008
6
3
3
Jun 2008
1
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Jul 2008
2
3
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7
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2
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6
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Dec 2008
3
2
2
Jan 2009
3
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5
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8
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6
3
5
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3
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4
3
2
Jul 2009
4
1
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1
0
0
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2
0
1
Nov 2009
1
1
0
Dec 2009
4
0
0
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0
1
1
Feb 2010
1
0
0
Mar 2010
0
0
2
Apr 2010
2
0
0
May 2010
3
1
2
Jun 2010
0
0
1
Jul 2010
3
0
0
Aug 2010
2
1
3
Sep 2010
2
3
0
Oct 2010
4
1
0
Nov 2010
4
0
0
Dec 2010
1
0
0
Jan 2011
10
2
0
Feb 2011
17
9
0
Mar 2011
5
2
0
Apr 2011
11
8
4
May 2011
20
1
0
Jun 2011
7
0
0
Jul 2011
8
1
0
Aug 2011
10
3
0
Sep 2011
2
4
0
Oct 2011
10
3
0
Nov 2011
5
6
0
Dec 2011
3
9
0
Jan 2012
6
10
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Feb 2012
1
3
0
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4
5
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Apr 2012
6
10
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May 2012
5
15
0
Jun 2012
2
10
0
Jul 2012
8
9
0
Aug 2012
4
9
0
Sep 2012
8
17
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Oct 2012
5
8
0
Nov 2012
0
7
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Dec 2012
0
9
0
Jan 2013
0
11
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10
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0
8
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Apr 2013
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12
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May 2013
0
15
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Jun 2013
8
11
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Jul 2013
17
13
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2
9
0
Sep 2013
5
17
0
Oct 2013
7
7
0
Nov 2013
3
40
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Dec 2013
1
29
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Jan 2014
3
8
0
Feb 2014
0
12
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6
11
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Apr 2014
5
10
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May 2014
4
7
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Jun 2014
0
9
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Jul 2014
3
12
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Aug 2014
1
12
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Sep 2014
8
16
0
Oct 2014
0
7
0
Nov 2014
0
3
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Dec 2014
3
8
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Jan 2015
1
6
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7
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8
12
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5
9
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0
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8
3
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Jul 2015
18
9
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20
2
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Sep 2015
132
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2
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58
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37
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6
7
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19
7
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6
5
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5
2
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0
2
1
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0
5
4
Apr 2017
1
8
32
May 2017
2
7
24
Jun 2017
2
9
4
Jul 2017
8
8
5
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9
9
1
Sep 2017
17
13
6
Oct 2017
15
15
5
Nov 2017
16
16
3
Dec 2017
6
6
0
Jan 2018
14
14
2
Feb 2018
14
14
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Mar 2018
4
4
2
Apr 2018
11
11
1
May 2018
26
26
9
Jun 2018
7
6
0
Jul 2018
15
9
3
Aug 2018
14
14
16
Sep 2018
7
5
0
Oct 2018
5
5
0
Nov 2018
7
7
1
Dec 2018
6
6
1
Jan 2019
4
4
1
Feb 2019
5
5
2
Mar 2019
5
5
3
Apr 2019
4
4
1
May 2019
11
11
4
Jun 2019
7
5
3
Jul 2019
9
9
2
Aug 2019
5
3
4
Sep 2019
2
2
0
Oct 2019
10
6
47
Nov 2019
7
7
46
Dec 2019
12
12
34
Jan 2020
15
15
3
Feb 2020
8
8
2
Mar 2020
5
3
16
Apr 2020
26
26
315
May 2020
15
14
25
Jun 2020
6
6
1
Jul 2020
7
7
2
Aug 2020
5
5
1
Sep 2020
24
20
2
Oct 2020
32
32
12
Nov 2020
37
38
21
Dec 2020
14
12
14
Jan 2021
13
12
4
Feb 2021
7
7
0
Mar 2021
8
8
1
Apr 2021
7
6
1
May 2021
8
6
0
Jun 2021
16
16
2
Jul 2021
8
7
12
Aug 2021
10
10
3
Sep 2021
16
16
6
Oct 2021
20
20
2
Nov 2021
42
36
3
Dec 2021
11
8
0
Jan 2022
14
10
0
Feb 2022
18
16
0
Mar 2022
27
23
2
Apr 2022
13
12
4
May 2022
31
27
3
Jun 2022
28
28
3
Jul 2022
12
11
2
Aug 2022
27
26
2
Sep 2022
67
66
1
Oct 2022
24
25
12
Nov 2022
8
7
3
Dec 2022
4
4
0
Jan 2023
13
11
2
Feb 2023
39
39
3
Mar 2023
17
19
0
Apr 2023
13
13
1
May 2023
18
13
4
Jun 2023
3
3
1
Jul 2023
11
11
11
Aug 2023
15
11
5
Sep 2023
8
8
3
Oct 2023
15
11
2
Nov 2023
15
11
2
Dec 2023
35
0
2
Jan 2024
31
0
0
Feb 2024
50
10
7
Mar 2024
50
3
1
Apr 2024
32
1
1
May 2024
27
2
0
Jun 2024
21
5
3
Jul 2024
35
0
0
Aug 2024
35
1
0
Sep 2024
88
3
0
Total
2314
2842
1083
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