Frequency of mutations for glycogen storage disease type II in different populations: the Δ525T and Δexon 18 mutations are not generally “common” in white populations

ROCHELLE HIRSCHHORN; MARYANN L HUIE

doi:10.1136/jmg.36.1.85

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Frequency of mutations for glycogen storage disease type II in different populations: the Δ525T and Δexon 18 mutations are not generally “common” in white populations

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Online download statistics by month: October 1999 to March 2024

	Abstract	Full	Pdf
Oct 1999	0	1	0
Nov 1999	0	4	0
Dec 1999	0	1	0
Jan 2000	0	2	0
Feb 2000	0	3	0
Mar 2000	0	4	0
Apr 2000	0	3	0
May 2000	0	6	0
Jun 2000	0	5	0
Jul 2000	0	3	0
Aug 2000	0	4	0
Oct 2000	0	1	0
Nov 2000	0	6	0
Dec 2000	0	2	0
Jan 2001	0	2	0
Feb 2001	0	8	0
Mar 2001	0	5	0
Apr 2001	0	2	0
May 2001	0	2	0
Jun 2001	0	5	0
Jul 2001	0	5	0
Aug 2001	0	3	0
Sep 2001	0	3	0
Oct 2001	0	4	0
Nov 2001	0	3	0
Dec 2001	0	6	0
Jan 2002	0	9	0
Feb 2002	0	7	0
Mar 2002	0	3	0
Apr 2002	0	5	0
May 2002	0	3	0
Jun 2002	0	2	0
Jul 2002	0	6	0
Aug 2002	0	3	0
Sep 2002	0	2	0
Oct 2002	0	8	0
Nov 2002	0	8	0
Dec 2002	0	1	0
Jan 2003	0	8	0
Feb 2003	0	1	0
Mar 2003	0	4	0
Apr 2003	0	2	0
May 2003	0	1	0
Jun 2003	0	8	0
Jul 2003	0	8	0
Aug 2003	0	12	0
Sep 2003	0	14	0
Oct 2003	0	11	0
Nov 2003	0	16	0
Dec 2003	0	8	0
Jan 2004	0	18	0
Feb 2004	0	4	0
Mar 2004	0	10	0
Apr 2004	0	15	0
May 2004	0	31	0
Jun 2004	0	43	0
Jul 2004	0	47	0
Aug 2004	0	71	0
Sep 2004	0	37	0
Oct 2004	8	22	0
Nov 2004	5	14	0
Dec 2004	7	14	0
Jan 2005	10	23	0
Feb 2005	4	16	0
Mar 2005	14	18	0
Apr 2005	0	12	0
May 2005	1	18	0
Jun 2005	1	5	0
Jul 2005	2	10	0
Aug 2005	1	10	3
Sep 2005	1	6	0
Oct 2005	1	8	0
Nov 2005	3	19	0
Dec 2005	2	13	0
Jan 2006	3	1	0
Feb 2006	4	16	0
Mar 2006	2	13	0
Apr 2006	0	4	0
May 2006	3	14	3
Jun 2006	1	5	0
Jul 2006	2	14	0
Aug 2006	1	15	0
Sep 2006	1	17	0
Oct 2006	1	28	0
Nov 2006	18	32	3
Dec 2006	0	8	0
Jan 2007	2	7	0
Feb 2007	0	12	0
Mar 2007	1	16	0
Apr 2007	6	2	0
May 2007	0	2	0
Jun 2007	0	6	0
Jul 2007	1	2	0
Aug 2007	2	4	0
Sep 2007	3	2	0
Oct 2007	5	10	0
Nov 2007	5	9	0
Dec 2007	3	11	0
Jan 2008	3	3	0
Feb 2008	3	4	0
Mar 2008	3	6	0
Apr 2008	2	3	0
May 2008	2	6	0
Jun 2008	5	7	0
Jul 2008	4	4	0
Aug 2008	6	10	0
Sep 2008	1	3	0
Oct 2008	3	2	0
Nov 2008	5	10	1
Dec 2008	1	4	0
Jan 2009	0	8	0
Feb 2009	6	0	0
Mar 2009	6	11	0
Apr 2009	2	2	0
May 2009	2	4	0
Jun 2009	3	4	0
Jul 2009	3	6	0
Aug 2009	3	1	0
Sep 2009	0	2	0
Oct 2009	1	2	0
Nov 2009	5	2	1
Dec 2009	7	4	0
Jan 2010	2	3	0
Feb 2010	4	5	0
Mar 2010	3	2	0
Apr 2010	5	3	0
May 2010	2	4	0
Jun 2010	5	2	0
Jul 2010	3	7	0
Aug 2010	0	2	0
Sep 2010	2	1	0
Oct 2010	4	8	0
Nov 2010	6	6	0
Dec 2010	3	2	0
Jan 2011	1	2	0
Feb 2011	4	4	0
Mar 2011	11	5	0
Apr 2011	8	4	0
May 2011	2	1	0
Jun 2011	7	1	0
Jul 2011	10	11	0
Aug 2011	9	4	0
Sep 2011	4	3	0
Oct 2011	5	0	0
Nov 2011	5	6	0
Dec 2011	6	14	0
Jan 2012	6	17	0
Feb 2012	6	2	0
Mar 2012	0	2	0
Apr 2012	8	5	0
May 2012	2	1	0
Jun 2012	9	5	0
Jul 2012	7	2	0
Aug 2012	7	10	0
Sep 2012	16	12	0
Oct 2012	9	5	0
Nov 2012	9	9	0
Dec 2012	18	14	0
Jan 2013	6	8	0
Feb 2013	14	18	0
Mar 2013	7	12	0
Apr 2013	12	6	0
May 2013	17	7	0
Jun 2013	8	3	0
Jul 2013	6	6	0
Aug 2013	3	4	0
Sep 2013	2	4	0
Oct 2013	5	8	0
Nov 2013	4	11	0
Dec 2013	2	3	0
Jan 2014	7	1	0
Feb 2014	9	7	0
Mar 2014	7	14	0
Apr 2014	9	9	0
May 2014	3	11	0
Jun 2014	5	13	0
Jul 2014	7	11	0
Aug 2014	6	11	0
Sep 2014	10	8	0
Oct 2014	30	38	0
Nov 2014	7	13	0
Dec 2014	5	12	0
Jan 2015	7	10	0
Feb 2015	14	3	0
Mar 2015	5	11	0
Apr 2015	4	13	0
May 2015	0	3	0
Jun 2015	1	21	0
Jul 2015	2	6	0
Aug 2015	9	5	0
Sep 2015	5	12	0
Oct 2015	4	11	0
Nov 2015	6	8	0
Dec 2015	0	7	0
Jan 2016	5	11	0
Feb 2016	2	5	0
Mar 2016	1	2	0
Apr 2016	3	18	0
May 2016	2	1	0
Jun 2016	1	5	0
Jul 2016	3	8	0
Aug 2016	4	5	0
Sep 2016	2	6	0
Oct 2016	1	7	0
Nov 2016	3	7	0
Dec 2016	1	3	0
Jan 2017	33	15	0
Feb 2017	0	5	0
Mar 2017	1	5	0
Apr 2017	1	14	0
May 2017	0	13	0
Jun 2017	5	13	0
Jul 2017	15	15	0
Aug 2017	13	13	0
Sep 2017	15	15	0
Oct 2017	20	18	0
Nov 2017	16	16	0
Dec 2017	5	5	0
Jan 2018	7	7	0
Feb 2018	19	17	0
Mar 2018	21	22	0
Apr 2018	16	15	0
May 2018	10	8	0
Jun 2018	13	9	0
Jul 2018	14	12	0
Aug 2018	7	3	0
Sep 2018	14	8	0
Oct 2018	6	6	0
Nov 2018	11	11	0
Dec 2018	14	14	0
Jan 2019	15	15	0
Feb 2019	9	10	0
Mar 2019	8	8	0
Apr 2019	4	2	0
May 2019	18	18	0
Jun 2019	8	8	0
Jul 2019	4	4	0
Aug 2019	4	4	0
Sep 2019	3	3	0
Oct 2019	7	8	0
Nov 2019	9	9	0
Dec 2019	13	13	0
Jan 2020	13	13	0
Feb 2020	7	7	0
Mar 2020	2	2	0
Apr 2020	37	37	0
May 2020	13	11	0
Jun 2020	3	3	0
Jul 2020	5	5	0
Aug 2020	12	12	0
Sep 2020	7	5	0
Oct 2020	7	6	0
Nov 2020	8	8	0
Dec 2020	5	5	0
Feb 2021	4	4	0
Mar 2021	4	4	0
Apr 2021	13	11	0
May 2021	5	5	0
Jun 2021	2	2	0
Jul 2021	4	4	0
Aug 2021	7	7	0
Sep 2021	7	7	0
Oct 2021	8	8	0
Nov 2021	3	3	0
Dec 2021	10	10	0
Jan 2022	18	18	0
Feb 2022	8	5	0
Mar 2022	9	7	0
Apr 2022	10	10	0
May 2022	22	20	0
Jun 2022	18	18	0
Jul 2022	10	9	0
Aug 2022	25	25	0
Sep 2022	15	15	0
Oct 2022	31	31	0
Nov 2022	20	16	0
Dec 2022	7	7	0
Jan 2023	3	2	0
Feb 2023	20	20	0
Apr 2023	23	21	0
May 2023	9	5	0
Jun 2023	1	1	0
Jul 2023	4	4	0
Aug 2023	6	6	0
Sep 2023	2	2	0
Oct 2023	6	6	0
Nov 2023	3	3	0
Dec 2023	9	1	0
Jan 2024	35	0	0
Feb 2024	11	1	0
Mar 2024	22	4	0
Total	1595	2512	11

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