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Volume 49, Issue 9
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma
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New disease loci
Original article
Exome sequencing identifies a
COL14A1
mutation in a large Chinese pedigree with punctate palmoplantar keratoderma
Online download statistics by month:
Online download statistics by month: September 2012 to March 2024
Abstract
Full
Pdf
Sep 2012
530
56
63
Oct 2012
400
43
43
Nov 2012
224
45
26
Dec 2012
89
11
15
Jan 2013
152
16
11
Feb 2013
68
10
9
Mar 2013
73
11
8
Apr 2013
77
6
2
May 2013
50
9
5
Jun 2013
51
9
8
Jul 2013
26
8
2
Aug 2013
31
5
3
Sep 2013
41
8
8
Oct 2013
44
6
11
Nov 2013
49
4
4
Dec 2013
30
3
4
Jan 2014
36
6
4
Feb 2014
46
2
7
Mar 2014
63
3
2
Apr 2014
42
1
3
May 2014
57
3
3
Jun 2014
28
6
6
Jul 2014
26
4
3
Aug 2014
18
3
2
Sep 2014
14
2
0
Oct 2014
19
6
6
Nov 2014
23
4
2
Dec 2014
40
3
3
Jan 2015
20
2
1
Feb 2015
27
4
4
Mar 2015
17
3
3
Apr 2015
14
6
2
May 2015
30
3
3
Jun 2015
20
5
4
Jul 2015
30
1
1
Aug 2015
19
4
4
Sep 2015
35
14
3
Oct 2015
24
2
2
Nov 2015
20
1
3
Dec 2015
14
4
2
Jan 2016
21
5
3
Feb 2016
17
2
2
Mar 2016
15
1
1
Apr 2016
32
2
0
May 2016
29
1
2
Jun 2016
26
5
3
Jul 2016
22
3
4
Aug 2016
22
2
1
Sep 2016
21
5
2
Oct 2016
21
3
2
Nov 2016
19
3
4
Dec 2016
10
1
1
Jan 2017
28
2
1
Feb 2017
42
3
3
Mar 2017
25
5
1
Apr 2017
50
0
0
May 2017
26
2
1
Jun 2017
35
2
1
Jul 2017
50
2
1
Aug 2017
64
2
1
Sep 2017
49
4
1
Oct 2017
62
2
1
Nov 2017
69
3
2
Dec 2017
25
3
3
Jan 2018
54
3
2
Feb 2018
112
7
2
Mar 2018
64
1
1
Apr 2018
47
5
5
May 2018
66
5
3
Jun 2018
39
2
1
Jul 2018
35
2
2
Aug 2018
184
1
1
Sep 2018
81
3
3
Oct 2018
63
3
1
Nov 2018
51
4
1
Dec 2018
34
2
0
Jan 2019
67
5
1
Feb 2019
69
5
3
Mar 2019
58
5
3
Apr 2019
45
2
1
May 2019
63
4
0
Jun 2019
51
2
0
Jul 2019
46
4
2
Aug 2019
24
0
2
Sep 2019
49
5
4
Oct 2019
95
3
1
Nov 2019
51
5
3
Dec 2019
63
5
1
Jan 2020
57
2
1
Feb 2020
27
3
0
Mar 2020
53
0
0
Apr 2020
21
1
1
May 2020
37
0
2
Jun 2020
70
5
6
Jul 2020
77
4
2
Aug 2020
29
1
2
Sep 2020
74
2
0
Oct 2020
45
4
3
Nov 2020
53
7
3
Dec 2020
56
5
3
Jan 2021
50
4
1
Feb 2021
43
1
0
Mar 2021
59
6
2
Apr 2021
39
2
1
May 2021
14
4
1
Jun 2021
2
1
1
Jul 2021
2
2
2
Aug 2021
2
1
1
Sep 2021
7
5
0
Oct 2021
48
2
0
Nov 2021
53
1
0
Dec 2021
30
4
0
Jan 2022
64
6
1
Feb 2022
81
6
1
Mar 2022
69
4
1
Apr 2022
130
12
4
May 2022
84
9
1
Jun 2022
84
1
1
Jul 2022
60
7
2
Aug 2022
64
6
2
Sep 2022
132
5
4
Oct 2022
83
3
1
Nov 2022
71
4
3
Dec 2022
33
5
2
Jan 2023
64
7
0
Feb 2023
74
4
2
Mar 2023
41
3
1
Apr 2023
48
2
1
May 2023
41
2
0
Jun 2023
33
3
1
Jul 2023
38
3
0
Aug 2023
21
5
2
Sep 2023
27
5
1
Oct 2023
67
3
0
Nov 2023
34
1
0
Dec 2023
121
2
1
Jan 2024
46
3
1
Feb 2024
37
0
0
Mar 2024
62
9
1
Total
7565
675
445
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