Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle

A Splendore; E W Jabs; M R Passos-Bueno

doi:10.1136/jmg.39.7.493

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Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle

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	Abstract	Full	Pdf
Jul 2002	0	49	23
Aug 2002	0	24	7
Sep 2002	0	13	2
Oct 2002	0	11	1
Nov 2002	0	19	2
Dec 2002	0	18	6
Jan 2003	0	7	2
Feb 2003	0	16	5
Mar 2003	0	16	3
Apr 2003	0	12	6
May 2003	0	12	9
Jun 2003	0	8	6
Jul 2003	0	35	9
Aug 2003	0	16	3
Sep 2003	0	14	3
Oct 2003	0	23	2
Nov 2003	0	15	1
Dec 2003	0	38	12
Jan 2004	0	65	7
Feb 2004	0	10	1
Mar 2004	0	20	8
Apr 2004	0	14	2
May 2004	0	39	7
Jun 2004	0	37	3
Jul 2004	0	56	9
Aug 2004	0	54	8
Sep 2004	0	60	7
Oct 2004	5	32	6
Nov 2004	9	36	6
Dec 2004	12	70	10
Jan 2005	10	28	14
Feb 2005	10	31	8
Mar 2005	12	37	12
Apr 2005	7	20	5
May 2005	2	25	12
Jun 2005	1	18	7
Jul 2005	3	19	3
Aug 2005	17	14	8
Sep 2005	9	6	4
Oct 2005	11	17	7
Nov 2005	12	38	8
Dec 2005	8	11	3
Jan 2006	5	7	2
Feb 2006	2	14	3
Mar 2006	4	27	3
Apr 2006	10	25	12
May 2006	2	13	4
Jun 2006	3	9	1
Jul 2006	2	5	4
Aug 2006	2	10	8
Sep 2006	3	8	9
Oct 2006	4	9	3
Nov 2006	2	14	9
Dec 2006	3	12	7
Jan 2007	1	9	1
Feb 2007	1	8	4
Mar 2007	3	15	3
Apr 2007	11	11	2
May 2007	5	5	4
Jun 2007	7	7	1
Jul 2007	5	4	6
Aug 2007	3	4	3
Sep 2007	5	1	1
Oct 2007	3	4	3
Nov 2007	6	9	3
Dec 2007	8	0	0
Jan 2008	0	3	2
Feb 2008	2	3	0
Mar 2008	4	2	3
Apr 2008	6	2	1
May 2008	2	0	0
Jun 2008	6	2	0
Jul 2008	2	6	1
Aug 2008	6	6	0
Sep 2008	2	3	4
Oct 2008	8	0	0
Nov 2008	7	6	1
Dec 2008	3	5	1
Jan 2009	3	2	2
Feb 2009	7	0	0
Mar 2009	9	0	6
Apr 2009	5	5	2
May 2009	2	1	1
Jun 2009	2	1	0
Jul 2009	4	3	1
Aug 2009	1	1	1
Sep 2009	3	1	0
Oct 2009	4	1	0
Nov 2009	13	2	0
Dec 2009	4	1	2
Jan 2010	1	1	2
Feb 2010	3	4	4
Mar 2010	4	3	2
Apr 2010	5	1	1
May 2010	4	0	2
Jun 2010	1	1	0
Jul 2010	2	2	2
Aug 2010	2	1	2
Sep 2010	0	1	0
Oct 2010	10	8	0
Nov 2010	6	1	3
Dec 2010	3	5	4
Jan 2011	3	0	0
Feb 2011	4	1	1
Mar 2011	8	3	1
Apr 2011	15	4	3
May 2011	17	3	1
Jun 2011	7	2	1
Jul 2011	19	2	5
Aug 2011	9	2	2
Sep 2011	8	1	1
Oct 2011	11	3	2
Nov 2011	8	3	3
Dec 2011	12	5	11
Jan 2012	5	6	10
Feb 2012	8	6	9
Mar 2012	4	2	3
Apr 2012	4	15	3
May 2012	1	2	4
Jun 2012	10	6	4
Jul 2012	4	6	7
Aug 2012	3	3	3
Sep 2012	4	1	7
Oct 2012	10	6	5
Nov 2012	0	22	5
Dec 2012	0	13	8
Jan 2013	0	10	3
Feb 2013	0	6	6
Mar 2013	0	8	5
Apr 2013	0	12	6
May 2013	0	11	6
Jun 2013	4	5	10
Jul 2013	3	6	1
Aug 2013	13	6	1
Sep 2013	3	6	8
Oct 2013	6	6	1
Nov 2013	6	13	7
Dec 2013	2	3	2
Jan 2014	2	4	3
Feb 2014	6	4	4
Mar 2014	7	5	4
Apr 2014	6	7	5
May 2014	11	10	8
Jun 2014	4	3	4
Jul 2014	7	34	7
Aug 2014	3	86	2
Sep 2014	3	71	0
Oct 2014	0	23	0
Nov 2014	6	4	4
Dec 2014	6	5	1
Jan 2015	1	5	1
Feb 2015	3	2	6
Mar 2015	6	8	2
Apr 2015	9	16	3
May 2015	5	7	6
Jun 2015	1	5	1
Jul 2015	2	3	0
Aug 2015	1	5	0
Sep 2015	11	4	3
Oct 2015	0	6	3
Nov 2015	8	4	2
Dec 2015	9	7	3
Jan 2016	5	14	6
Feb 2016	6	3	3
Mar 2016	5	3	4
Apr 2016	4	6	3
May 2016	6	8	3
Jun 2016	10	13	7
Jul 2016	7	7	2
Aug 2016	11	7	3
Sep 2016	12	4	3
Oct 2016	10	6	4
Nov 2016	8	5	2
Dec 2016	8	6	0
Jan 2017	3	2	1
Feb 2017	0	0	1
Mar 2017	0	14	3
Apr 2017	0	19	6
May 2017	1	12	2
Jun 2017	4	10	3
Jul 2017	8	8	0
Aug 2017	20	16	1
Sep 2017	14	14	5
Oct 2017	20	20	1
Nov 2017	23	19	4
Dec 2017	14	14	6
Jan 2018	26	22	4
Feb 2018	30	18	3
Mar 2018	83	81	10
Apr 2018	19	20	2
May 2018	52	49	3
Jun 2018	35	35	5
Jul 2018	27	27	6
Aug 2018	38	38	2
Sep 2018	21	21	4
Oct 2018	43	41	1
Nov 2018	59	49	9
Dec 2018	53	54	5
Jan 2019	47	47	2
Feb 2019	76	74	5
Mar 2019	48	49	13
Apr 2019	41	40	8
May 2019	16	14	4
Jun 2019	8	8	8
Jul 2019	18	18	8
Aug 2019	14	14	4
Sep 2019	11	3	4
Oct 2019	23	22	7
Nov 2019	14	14	4
Dec 2019	17	15	3
Jan 2020	28	28	7
Feb 2020	13	12	6
Mar 2020	27	19	5
Apr 2020	12	9	5
May 2020	14	14	3
Jun 2020	17	5	4
Jul 2020	13	14	2
Aug 2020	7	8	3
Sep 2020	18	16	7
Oct 2020	29	26	3
Nov 2020	15	11	5
Dec 2020	14	14	5
Jan 2021	31	29	8
Feb 2021	9	9	5
Mar 2021	22	18	8
Apr 2021	24	20	7
May 2021	4	2	3
Jun 2021	10	7	2
Jul 2021	5	5	6
Aug 2021	8	8	9
Sep 2021	15	14	5
Oct 2021	9	7	21
Nov 2021	6	7	15
Dec 2021	16	14	3
Jan 2022	28	28	5
Feb 2022	48	49	4
Mar 2022	59	57	9
Apr 2022	73	73	4
May 2022	77	77	11
Jun 2022	83	81	4
Jul 2022	78	77	6
Aug 2022	85	82	5
Sep 2022	56	56	9
Oct 2022	46	46	14
Nov 2022	85	83	5
Dec 2022	47	44	2
Jan 2023	67	67	6
Feb 2023	68	66	3
Mar 2023	74	74	4
Apr 2023	43	41	4
May 2023	64	65	12
Jun 2023	51	50	2
Jul 2023	51	51	6
Aug 2023	65	65	4
Sep 2023	5	5	7
Oct 2023	12	10	5
Nov 2023	10	10	3
Dec 2023	24	2	0
Jan 2024	94	2	1
Feb 2024	16	0	0
Mar 2024	136	2	2
Total	3631	4536	1121

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