Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

I Redonnet-Vernhet; J K Ploos van Amstel; R P Jansen; R A Wevers; R Salvayre; T Levade

doi:10.1136/jmg.33.8.682

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Research Article

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

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	Abstract	Full	Pdf
Oct 1999	1	0	0
Nov 1999	1	0	0
Jun 2000	1	0	0
Oct 2000	1	0	0
Nov 2000	1	0	0
Dec 2000	1	0	0
Apr 2001	1	0	0
May 2001	2	0	0
Jun 2001	2	0	0
Jul 2001	1	0	0
Oct 2001	1	0	0
Nov 2001	0	0	1
Dec 2001	2	0	0
Jan 2002	1	0	1
Feb 2002	0	0	2
Apr 2002	2	0	1
May 2002	1	0	0
Jun 2002	6	0	0
Oct 2002	0	0	1
Dec 2002	1	0	0
Jan 2003	3	0	0
Apr 2003	1	0	0
May 2003	2	0	0
Jun 2003	1	0	0
Jul 2003	4	0	0
Aug 2003	6	0	0
Sep 2003	4	0	0
Oct 2003	11	0	0
Nov 2003	7	0	0
Dec 2003	13	0	0
Jan 2004	10	0	0
Feb 2004	6	0	0
Mar 2004	11	0	0
Apr 2004	9	0	0
May 2004	6	0	0
Jun 2004	6	0	0
Jul 2004	13	0	0
Aug 2004	5	0	0
Sep 2004	4	0	0
Oct 2004	2	0	0
Nov 2004	6	0	0
Dec 2004	6	0	0
Jan 2005	3	0	0
Feb 2005	6	0	0
Mar 2005	6	0	0
Apr 2005	2	0	0
May 2005	2	0	0
Jun 2005	4	0	0
Jul 2005	4	0	0
Aug 2005	2	0	0
Sep 2005	2	0	0
Oct 2005	4	0	0
Nov 2005	4	0	0
Dec 2005	2	0	0
Jan 2006	3	0	0
Mar 2006	3	0	0
Apr 2006	5	0	0
May 2006	5	0	0
Jun 2006	13	0	1
Jul 2006	4	0	0
Aug 2006	3	0	0
Sep 2006	2	0	0
Oct 2006	7	0	0
Nov 2006	10	0	0
Dec 2006	6	0	0
Jan 2007	2	0	0
Feb 2007	6	0	0
Mar 2007	11	0	0
Apr 2007	7	0	0
May 2007	7	0	0
Jun 2007	1	0	0
Jul 2007	5	0	0
Aug 2007	2	0	0
Sep 2007	4	0	0
Oct 2007	13	0	0
Dec 2007	2	0	0
Jan 2008	5	0	0
Feb 2008	3	0	0
Mar 2008	7	0	0
Apr 2008	5	0	0
May 2008	4	0	0
Jun 2008	3	0	0
Jul 2008	2	0	0
Aug 2008	4	0	0
Sep 2008	13	0	0
Oct 2008	5	0	0
Nov 2008	5	0	0
Dec 2008	0	0	3
Jan 2009	3	0	0
Feb 2009	3	0	4
Mar 2009	9	0	10
Apr 2009	4	0	5
May 2009	4	0	4
Jun 2009	3	0	3
Jul 2009	3	0	0
Aug 2009	9	0	1
Sep 2009	1	0	0
Oct 2009	5	0	1
Nov 2009	7	0	1
Dec 2009	8	0	2
Jan 2010	3	0	4
Feb 2010	8	0	4
Mar 2010	9	0	1
Apr 2010	18	0	3
May 2010	10	0	7
Jun 2010	13	0	18
Jul 2010	6	0	4
Aug 2010	3	0	3
Sep 2010	9	0	5
Oct 2010	8	0	0
Nov 2010	7	0	2
Dec 2010	3	0	1
Jan 2011	9	0	0
Feb 2011	3	0	5
Mar 2011	9	0	1
Apr 2011	7	0	4
May 2011	3	0	4
Jun 2011	4	0	0
Jul 2011	3	0	1
Aug 2011	7	0	5
Sep 2011	8	0	1
Oct 2011	1	0	0
Nov 2011	4	0	2
Dec 2011	8	0	6
Jan 2012	1	0	4
Feb 2012	2	0	4
Mar 2012	4	0	3
Apr 2012	5	0	4
May 2012	9	0	3
Jun 2012	5	0	4
Jul 2012	7	0	3
Aug 2012	5	0	3
Sep 2012	12	0	4
Oct 2012	15	0	3
Nov 2012	12	0	2
Dec 2012	9	0	4
Jan 2013	18	0	6
Feb 2013	6	0	3
Mar 2013	11	0	16
Apr 2013	3	0	4
May 2013	14	0	11
Jun 2013	2	0	3
Jul 2013	3	0	3
Aug 2013	8	0	2
Sep 2013	3	0	1
Oct 2013	7	0	4
Nov 2013	10	0	7
Dec 2013	7	0	1
Jan 2014	11	0	8
Feb 2014	7	0	3
Mar 2014	14	0	5
Apr 2014	9	0	10
May 2014	6	0	6
Jun 2014	7	0	4
Jul 2014	9	0	15
Aug 2014	12	0	5
Sep 2014	4	1	2
Oct 2014	13	0	6
Nov 2014	5	0	7
Dec 2014	3	0	4
Jan 2015	7	0	7
Feb 2015	5	0	8
Mar 2015	4	0	4
Apr 2015	7	0	3
May 2015	3	0	4
Jun 2015	1	0	0
Jul 2015	5	0	8
Aug 2015	12	0	2
Sep 2015	6	0	1
Oct 2015	14	0	15
Nov 2015	22	0	10
Dec 2015	13	0	10
Jan 2016	12	0	6
Feb 2016	5	0	5
Mar 2016	12	0	11
Apr 2016	8	0	7
May 2016	15	0	4
Jun 2016	5	0	5
Jul 2016	4	0	2
Aug 2016	3	0	8
Sep 2016	4	0	5
Oct 2016	6	0	4
Nov 2016	5	0	1
Dec 2016	4	1	2
Jan 2017	6	0	3
Feb 2017	12	0	4
Mar 2017	12	0	4
Apr 2017	4	0	1
May 2017	14	0	1
Jun 2017	27	0	3
Jul 2017	21	0	5
Aug 2017	20	0	2
Sep 2017	16	0	1
Oct 2017	28	0	13
Nov 2017	20	0	6
Dec 2017	22	0	1
Jan 2018	34	0	3
Feb 2018	28	0	3
Mar 2018	32	0	3
Apr 2018	20	0	2
May 2018	26	0	5
Jun 2018	26	0	7
Jul 2018	12	0	3
Aug 2018	12	0	7
Sep 2018	16	0	4
Oct 2018	28	0	8
Nov 2018	28	0	2
Dec 2018	18	0	4
Jan 2019	20	0	6
Feb 2019	20	0	7
Mar 2019	17	0	12
Apr 2019	26	0	8
May 2019	14	0	10
Jun 2019	21	0	8
Jul 2019	10	0	9
Aug 2019	16	0	4
Sep 2019	8	0	5
Oct 2019	18	0	7
Nov 2019	18	0	7
Dec 2019	8	0	6
Jan 2020	26	0	0
Feb 2020	14	0	6
Mar 2020	9	0	3
Apr 2020	28	0	12
May 2020	16	0	9
Jun 2020	20	0	10
Jul 2020	33	0	14
Aug 2020	10	0	11
Sep 2020	28	0	8
Oct 2020	40	0	17
Nov 2020	24	0	9
Dec 2020	28	0	9
Jan 2021	17	0	8
Feb 2021	16	0	4
Mar 2021	34	0	4
Apr 2021	8	0	5
May 2021	4	0	4
Jun 2021	0	0	2
Jul 2021	0	0	13
Aug 2021	0	0	15
Sep 2021	0	0	12
Oct 2021	18	0	25
Nov 2021	28	0	26
Dec 2021	30	0	9
Jan 2022	22	0	4
Feb 2022	20	0	3
Mar 2022	28	0	11
Apr 2022	22	0	3
May 2022	43	0	8
Jun 2022	36	0	4
Jul 2022	24	0	1
Aug 2022	38	0	4
Sep 2022	52	0	33
Oct 2022	44	0	14
Nov 2022	34	0	12
Dec 2022	12	0	4
Jan 2023	26	0	7
Feb 2023	62	0	4
Mar 2023	34	0	7
Apr 2023	28	0	10
May 2023	6	0	5
Jun 2023	14	0	4
Jul 2023	42	0	9
Aug 2023	23	0	5
Sep 2023	35	0	8
Oct 2023	32	0	10
Nov 2023	28	0	1
Dec 2023	38	0	1
Jan 2024	20	0	1
Feb 2024	36	0	1
Mar 2024	135	0	2
Total	3105	2	1026

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