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Volume 41, Issue 6
P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome
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Online mutation report
P
gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome
Online download statistics by month:
Online download statistics by month: May 2004 to March 2024
Abstract
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Pdf
May 2004
0
1
0
Jun 2004
0
191
41
Jul 2004
0
158
23
Aug 2004
0
125
13
Sep 2004
1
69
11
Oct 2004
15
34
2
Nov 2004
22
88
19
Dec 2004
12
56
9
Jan 2005
18
74
5
Feb 2005
14
44
1
Mar 2005
22
71
9
Apr 2005
7
48
4
May 2005
4
31
3
Jun 2005
2
25
10
Jul 2005
3
16
7
Aug 2005
0
17
6
Sep 2005
1
29
12
Oct 2005
6
25
9
Nov 2005
0
27
3
Dec 2005
3
24
3
Jan 2006
4
28
8
Feb 2006
3
20
5
Mar 2006
3
40
2
Apr 2006
3
36
7
May 2006
3
24
6
Jun 2006
3
14
4
Jul 2006
1
18
6
Aug 2006
4
26
8
Sep 2006
1
22
7
Oct 2006
2
25
9
Nov 2006
3
46
5
Dec 2006
0
39
6
Jan 2007
0
33
8
Feb 2007
1
35
13
Mar 2007
8
48
13
Apr 2007
30
12
6
May 2007
16
4
2
Jun 2007
20
5
2
Jul 2007
9
9
4
Aug 2007
11
6
9
Sep 2007
7
6
2
Oct 2007
12
6
3
Nov 2007
14
6
1
Dec 2007
6
0
0
Jan 2008
18
6
6
Feb 2008
18
5
2
Mar 2008
20
14
5
Apr 2008
19
2
3
May 2008
15
7
1
Jun 2008
7
7
3
Jul 2008
14
9
7
Aug 2008
19
11
3
Sep 2008
16
7
3
Oct 2008
12
2
0
Nov 2008
15
6
4
Dec 2008
14
2
1
Jan 2009
26
7
2
Feb 2009
47
9
0
Mar 2009
32
4
0
Apr 2009
20
2
3
May 2009
12
2
1
Jun 2009
10
2
79
Jul 2009
4
1
0
Aug 2009
5
3
1
Sep 2009
11
10
3
Oct 2009
13
2
4
Nov 2009
16
3
3
Dec 2009
16
0
0
Jan 2010
7
2
2
Feb 2010
5
1
4
Mar 2010
11
3
0
Apr 2010
10
2
2
May 2010
7
0
1
Jun 2010
5
3
6
Jul 2010
16
7
3
Aug 2010
11
4
5
Sep 2010
32
11
3
Oct 2010
34
3
2
Nov 2010
31
4
3
Dec 2010
12
5
0
Jan 2011
18
5
1
Feb 2011
21
3
3
Mar 2011
25
9
2
Apr 2011
22
6
2
May 2011
35
7
6
Jun 2011
13
5
1
Jul 2011
15
6
5
Aug 2011
13
0
0
Sep 2011
40
2
1
Oct 2011
25
3
1
Nov 2011
39
11
3
Dec 2011
4
24
7
Jan 2012
4
22
4
Feb 2012
3
17
4
Mar 2012
5
11
4
Apr 2012
7
20
2
May 2012
9
17
8
Jun 2012
7
15
4
Jul 2012
5
13
4
Aug 2012
8
10
6
Sep 2012
13
17
5
Oct 2012
10
28
6
Nov 2012
0
16
5
Dec 2012
0
18
7
Jan 2013
0
41
6
Feb 2013
0
27
7
Mar 2013
0
19
4
Apr 2013
0
18
5
May 2013
0
28
2
Jun 2013
6
6
2
Jul 2013
6
12
2
Aug 2013
4
6
3
Sep 2013
5
10
7
Oct 2013
5
12
2
Nov 2013
6
15
6
Dec 2013
2
10
0
Jan 2014
1
12
0
Feb 2014
8
15
1
Mar 2014
9
19
0
Apr 2014
3
18
5
May 2014
1
25
1
Jun 2014
3
19
3
Jul 2014
8
30
2
Aug 2014
10
29
3
Sep 2014
5
30
5
Oct 2014
6
38
3
Nov 2014
1
12
2
Dec 2014
4
6
2
Jan 2015
2
12
1
Feb 2015
4
7
2
Mar 2015
11
16
2
Apr 2015
8
12
0
May 2015
5
26
3
Jun 2015
3
12
0
Jul 2015
2
12
0
Aug 2015
8
12
5
Sep 2015
14
10
4
Oct 2015
4
13
1
Nov 2015
12
19
3
Dec 2015
15
24
1
Jan 2016
23
16
3
Feb 2016
10
15
2
Mar 2016
9
7
7
Apr 2016
5
16
5
May 2016
4
15
2
Jun 2016
4
8
3
Jul 2016
6
8
1
Aug 2016
3
12
5
Sep 2016
12
8
2
Oct 2016
6
8
6
Nov 2016
7
15
1
Dec 2016
6
12
1
Jan 2017
6
7
2
Feb 2017
3
14
1
Mar 2017
0
13
3
Apr 2017
0
18
6
May 2017
2
13
1
Jun 2017
4
20
6
Jul 2017
10
9
0
Aug 2017
14
14
1
Sep 2017
14
14
1
Oct 2017
24
18
3
Nov 2017
16
10
7
Dec 2017
15
13
3
Jan 2018
31
31
8
Feb 2018
25
23
4
Mar 2018
21
21
1
Apr 2018
35
36
2
May 2018
38
38
7
Jun 2018
62
58
5
Jul 2018
22
22
5
Aug 2018
39
37
8
Sep 2018
40
40
2
Oct 2018
80
79
4
Nov 2018
58
58
8
Dec 2018
56
56
6
Jan 2019
60
58
9
Feb 2019
43
42
8
Mar 2019
28
28
7
Apr 2019
15
12
8
May 2019
19
19
8
Jun 2019
10
10
11
Jul 2019
13
14
12
Aug 2019
13
13
5
Sep 2019
14
14
4
Oct 2019
17
15
3
Nov 2019
12
12
6
Dec 2019
11
9
5
Jan 2020
26
26
7
Feb 2020
15
15
4
Mar 2020
13
13
1
Apr 2020
25
23
5
May 2020
20
20
8
Jun 2020
11
10
4
Jul 2020
16
16
5
Aug 2020
17
15
10
Sep 2020
21
17
7
Oct 2020
18
16
7
Nov 2020
13
12
2
Dec 2020
29
28
2
Jan 2021
16
16
4
Feb 2021
13
13
5
Mar 2021
27
27
3
Apr 2021
9
9
4
May 2021
23
17
5
Jun 2021
15
15
3
Jul 2021
8
8
6
Aug 2021
12
10
5
Sep 2021
20
18
7
Oct 2021
9
9
19
Nov 2021
34
32
15
Dec 2021
25
23
3
Jan 2022
9
9
6
Feb 2022
23
21
3
Mar 2022
32
29
4
Apr 2022
20
19
3
May 2022
37
35
7
Jun 2022
29
28
8
Jul 2022
17
17
2
Aug 2022
36
36
3
Sep 2022
25
25
7
Oct 2022
35
35
10
Nov 2022
23
23
4
Dec 2022
18
15
3
Jan 2023
22
26
14
Feb 2023
31
32
2
Mar 2023
22
27
6
Apr 2023
22
22
15
May 2023
21
19
10
Jun 2023
12
12
4
Jul 2023
15
11
8
Aug 2023
19
20
9
Sep 2023
24
18
5
Oct 2023
35
35
11
Nov 2023
15
15
1
Dec 2023
34
1
1
Jan 2024
23
1
0
Feb 2024
46
2
0
Mar 2024
119
7
1
Total
3560
4742
1183
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