Critical consequences of finding three pathogenic mutations in an individual with recessive disease

Sally Halsall; Adeline K Nicholas; Gemma Thornton; Howard Martin; C Geoffrey Woods

doi:10.1136/jmg.2010.079277

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Letter to JMG

Critical consequences of finding three pathogenic mutations in an individual with recessive disease

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	Abstract	Full	Pdf
Aug 2010	379	199	75
Sep 2010	409	341	154
Oct 2010	414	217	128
Nov 2010	123	15	34
Dec 2010	34	3	14
Jan 2011	22	6	8
Feb 2011	18	4	12
Mar 2011	12	2	7
Apr 2011	5	2	7
May 2011	11	5	4
Jun 2011	13	1	3
Jul 2011	21	1	0
Aug 2011	6	2	0
Sep 2011	9	6	6
Oct 2011	5	1	0
Nov 2011	26	1	1
Dec 2011	8	3	2
Jan 2012	12	1	3
Feb 2012	17	1	1
Mar 2012	6	0	0
Apr 2012	15	0	1
May 2012	12	2	2
Jun 2012	10	1	0
Jul 2012	7	0	1
Aug 2012	4	1	1
Sep 2012	13	3	2
Oct 2012	7	0	0
Nov 2012	18	2	0
Dec 2012	12	1	4
Jan 2013	28	2	2
Feb 2013	12	2	3
Mar 2013	17	1	1
Apr 2013	20	0	0
May 2013	20	3	1
Jun 2013	13	1	0
Jul 2013	30	0	0
Aug 2013	15	0	0
Sep 2013	6	0	0
Oct 2013	12	1	1
Nov 2013	25	3	1
Dec 2013	9	2	1
Jan 2014	8	0	0
Feb 2014	13	0	0
Mar 2014	18	1	1
Apr 2014	20	1	0
May 2014	18	0	1
Jun 2014	14	1	1
Jul 2014	21	0	0
Aug 2014	17	3	1
Sep 2014	8	1	0
Oct 2014	8	1	1
Nov 2014	7	1	0
Dec 2014	4	0	2
Jan 2015	6	2	0
Feb 2015	11	0	0
Mar 2015	14	0	0
Apr 2015	9	0	0
May 2015	13	1	2
Jun 2015	9	3	3
Jul 2015	6	2	2
Aug 2015	9	2	3
Sep 2015	27	0	2
Oct 2015	12	4	4
Nov 2015	10	2	2
Dec 2015	10	0	0
Jan 2016	13	2	2
Feb 2016	3	0	0
Mar 2016	8	0	0
Apr 2016	6	1	0
May 2016	6	0	0
Jun 2016	6	0	0
Jul 2016	16	1	1
Aug 2016	12	1	1
Sep 2016	11	0	0
Oct 2016	13	1	2
Nov 2016	12	0	1
Dec 2016	7	0	0
Jan 2017	15	1	1
Feb 2017	8	0	1
Mar 2017	14	1	0
Apr 2017	5	0	0
May 2017	15	0	0
Jun 2017	17	0	0
Jul 2017	8	0	0
Aug 2017	31	0	1
Sep 2017	14	2	0
Oct 2017	32	0	1
Nov 2017	34	1	1
Dec 2017	33	2	1
Jan 2018	27	0	0
Feb 2018	19	2	2
Mar 2018	36	1	0
Apr 2018	48	1	0
May 2018	22	0	0
Jun 2018	36	0	0
Jul 2018	84	0	0
Aug 2018	19	0	0
Sep 2018	16	0	0
Oct 2018	126	0	0
Nov 2018	19	0	0
Dec 2018	31	0	0
Jan 2019	37	1	0
Feb 2019	31	0	0
Mar 2019	18	1	1
Apr 2019	24	0	0
May 2019	29	1	0
Jun 2019	18	2	0
Jul 2019	17	1	0
Aug 2019	36	1	1
Sep 2019	60	16	10
Oct 2019	31	2	0
Nov 2019	7	0	2
Dec 2019	27	2	0
Jan 2020	39	2	4
Feb 2020	28	3	1
Mar 2020	15	1	3
Apr 2020	4	0	0
May 2020	12	0	0
Jun 2020	15	0	0
Jul 2020	12	0	0
Aug 2020	8	1	0
Sep 2020	38	0	0
Oct 2020	30	1	0
Nov 2020	24	4	2
Dec 2020	26	0	0
Jan 2021	26	0	0
Feb 2021	18	2	1
Mar 2021	20	0	0
Apr 2021	4	0	0
May 2021	6	0	0
Jun 2021	3	1	0
Sep 2021	1	1	2
Oct 2021	12	2	1
Nov 2021	12	0	0
Dec 2021	25	1	0
Jan 2022	27	0	0
Feb 2022	14	0	0
Mar 2022	23	1	1
Apr 2022	14	0	0
May 2022	46	0	0
Jun 2022	42	0	0
Jul 2022	34	1	0
Aug 2022	47	1	3
Sep 2022	48	0	0
Oct 2022	55	1	0
Nov 2022	15	0	0
Dec 2022	9	1	1
Jan 2023	8	0	0
Feb 2023	40	2	0
Mar 2023	4	0	0
Apr 2023	4	0	0
May 2023	17	0	0
Jun 2023	5	1	1
Jul 2023	12	0	1
Aug 2023	9	0	0
Sep 2023	7	1	0
Oct 2023	12	0	0
Nov 2023	14	0	0
Dec 2023	15	1	0
Jan 2024	4	0	0
Feb 2024	29	2	2
Mar 2024	24	2	0
Total	4260	938	557

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