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Volume 30, Issue 2
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
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Research Article
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
Online download statistics by month:
Online download statistics by month: November 1999 to March 2024
Abstract
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Nov 1999
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Mar 2000
1
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Nov 2000
1
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Mar 2001
1
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0
Apr 2001
3
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0
Nov 2001
2
0
0
Jan 2002
0
0
1
Feb 2002
1
0
1
Sep 2002
1
0
0
Dec 2002
2
0
0
Feb 2003
2
0
0
Mar 2003
1
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0
Apr 2003
1
0
0
Jul 2003
4
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0
Aug 2003
6
0
0
Sep 2003
3
0
0
Oct 2003
4
0
0
Nov 2003
8
0
0
Dec 2003
9
0
0
Jan 2004
8
0
0
Feb 2004
10
0
0
Mar 2004
9
0
0
Apr 2004
5
0
0
May 2004
7
0
0
Jun 2004
7
0
0
Jul 2004
11
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0
Aug 2004
5
0
0
Sep 2004
1
0
0
Oct 2004
3
0
0
Nov 2004
6
0
0
Dec 2004
4
0
0
Jan 2005
10
0
0
Feb 2005
4
0
0
Mar 2005
19
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0
Apr 2005
10
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0
May 2005
3
0
0
Jun 2005
9
0
0
Jul 2005
4
0
0
Oct 2005
2
0
0
Nov 2005
1
0
0
Jan 2006
3
0
0
Mar 2006
2
0
0
Apr 2006
2
0
0
Jun 2006
4
0
1
Sep 2006
1
0
0
Oct 2006
5
0
0
Nov 2006
3
0
0
Dec 2006
2
0
0
Jan 2007
2
0
0
Feb 2007
1
0
0
Mar 2007
6
0
0
Apr 2007
2
0
0
May 2007
1
0
0
Jul 2007
3
0
0
Aug 2007
1
0
0
Oct 2007
2
0
0
Nov 2007
1
0
0
Dec 2007
4
0
0
Jan 2008
1
0
0
Feb 2008
2
0
0
Apr 2008
2
0
0
Jul 2008
6
0
0
Aug 2008
2
0
0
Sep 2008
5
0
0
Nov 2008
3
0
0
Dec 2008
2
0
0
Jan 2009
2
0
0
Feb 2009
2
0
0
Mar 2009
0
0
1
Apr 2009
7
0
2
May 2009
2
0
1
Jun 2009
2
0
1
Jul 2009
2
0
0
Sep 2009
1
0
2
Oct 2009
4
0
3
Nov 2009
4
0
2
Dec 2009
5
0
1
Jan 2010
0
0
1
Feb 2010
2
0
1
Mar 2010
6
0
3
Apr 2010
1
0
1
May 2010
1
0
0
Jun 2010
3
0
4
Jul 2010
2
0
3
Aug 2010
2
0
0
Sep 2010
5
0
0
Oct 2010
6
0
2
Nov 2010
6
0
1
Dec 2010
4
0
0
Jan 2011
4
0
1
Feb 2011
3
0
0
Mar 2011
2
0
1
Apr 2011
1
0
1
May 2011
2
0
0
Jun 2011
3
0
1
Jul 2011
3
0
1
Aug 2011
3
0
1
Sep 2011
2
0
0
Oct 2011
2
0
0
Nov 2011
6
0
3
Dec 2011
0
0
4
Jan 2012
1
0
7
Feb 2012
2
0
8
Mar 2012
1
0
4
Apr 2012
4
0
4
May 2012
13
0
6
Jun 2012
5
0
7
Jul 2012
2
0
2
Aug 2012
2
0
6
Sep 2012
3
0
3
Oct 2012
5
0
8
Nov 2012
9
0
7
Dec 2012
5
0
7
Jan 2013
13
0
7
Feb 2013
12
0
3
Mar 2013
12
0
11
Apr 2013
13
0
15
May 2013
16
0
6
Jun 2013
3
0
3
Jul 2013
2
0
1
Aug 2013
11
0
4
Sep 2013
6
0
1
Oct 2013
4
0
0
Nov 2013
3
0
1
Dec 2013
1
0
1
Jan 2014
2
0
4
Feb 2014
1
0
1
Mar 2014
5
0
2
Apr 2014
5
0
0
May 2014
3
0
1
Jun 2014
1
0
5
Jul 2014
5
0
7
Aug 2014
6
0
2
Sep 2014
3
0
5
Oct 2014
14
0
6
Nov 2014
7
0
0
Dec 2014
4
0
3
Jan 2015
2
0
5
Feb 2015
1
0
6
Mar 2015
3
0
3
Apr 2015
6
0
2
May 2015
1
0
2
Jun 2015
3
0
4
Jul 2015
3
0
7
Aug 2015
0
0
3
Sep 2015
3
0
4
Oct 2015
2
0
12
Nov 2015
3
0
3
Dec 2015
7
0
6
Jan 2016
5
0
2
Feb 2016
0
0
1
Mar 2016
1
0
5
Apr 2016
3
0
0
May 2016
4
0
3
Jun 2016
2
0
6
Jul 2016
2
0
4
Aug 2016
3
0
1
Sep 2016
3
1
3
Oct 2016
6
0
3
Nov 2016
2
0
2
Dec 2016
0
1
2
Jan 2017
5
0
1
Feb 2017
2
0
0
Mar 2017
5
0
0
Apr 2017
2
0
1
May 2017
6
0
3
Jun 2017
7
0
1
Aug 2017
4
0
0
Sep 2017
8
0
2
Oct 2017
14
0
5
Nov 2017
20
0
1
Dec 2017
14
0
0
Jan 2018
24
0
1
Feb 2018
17
0
3
Mar 2018
34
0
4
Apr 2018
10
0
0
May 2018
18
0
0
Jun 2018
14
0
0
Jul 2018
12
0
2
Aug 2018
20
0
2
Sep 2018
18
0
1
Oct 2018
28
0
0
Nov 2018
24
0
4
Dec 2018
22
0
2
Jan 2019
14
0
5
Feb 2019
9
0
4
Mar 2019
28
0
7
Apr 2019
14
0
4
May 2019
4
0
5
Jun 2019
18
0
2
Jul 2019
4
0
4
Aug 2019
4
0
1
Sep 2019
4
0
2
Oct 2019
12
0
1
Nov 2019
4
0
4
Dec 2019
2
0
4
Jan 2020
10
0
1
Feb 2020
8
0
4
Mar 2020
24
0
5
Apr 2020
20
0
7
May 2020
18
0
3
Jun 2020
8
0
3
Jul 2020
12
0
2
Aug 2020
2
0
3
Sep 2020
16
0
5
Oct 2020
32
0
4
Nov 2020
12
0
6
Dec 2020
16
0
1
Jan 2021
20
0
2
Feb 2021
10
0
1
Mar 2021
18
0
5
Apr 2021
14
0
6
May 2021
4
0
7
Jul 2021
0
0
7
Aug 2021
0
0
3
Sep 2021
0
0
6
Oct 2021
22
0
17
Nov 2021
4
0
9
Dec 2021
14
0
2
Jan 2022
12
0
0
Feb 2022
16
0
6
Mar 2022
40
0
4
Apr 2022
20
0
1
May 2022
46
0
10
Jun 2022
30
0
4
Jul 2022
16
0
4
Aug 2022
44
0
5
Sep 2022
34
0
8
Oct 2022
58
0
7
Nov 2022
22
0
4
Dec 2022
4
0
1
Jan 2023
12
0
4
Feb 2023
66
0
4
Mar 2023
12
0
7
Apr 2023
12
0
7
May 2023
8
0
6
Jun 2023
2
0
1
Jul 2023
10
0
4
Aug 2023
2
0
3
Sep 2023
10
0
2
Oct 2023
20
0
1
Nov 2023
20
0
2
Dec 2023
16
0
1
Jan 2024
10
0
0
Feb 2024
32
0
0
Mar 2024
23
0
1
Total
1952
2
574
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