A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proα1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases

J M Pace; D Chitayat; M Atkinson; W R Wilcox; U Schwarze; P H Byers

doi:10.1136/jmg.39.1.23

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Original article

A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proα1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases

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	Abstract	Full	Pdf
Feb 2002	24	84	30
Mar 2002	7	34	6
Apr 2002	4	29	6
May 2002	3	21	14
Jun 2002	2	12	6
Jul 2002	4	16	11
Aug 2002	0	13	11
Sep 2002	0	18	18
Oct 2002	4	27	16
Nov 2002	2	29	20
Dec 2002	4	17	9
Jan 2003	3	20	7
Feb 2003	6	24	19
Mar 2003	3	21	13
Apr 2003	3	16	19
May 2003	4	15	18
Jun 2003	2	31	26
Jul 2003	14	23	6
Aug 2003	11	20	9
Sep 2003	11	38	10
Oct 2003	17	75	3
Nov 2003	9	22	2
Dec 2003	17	11	0
Jan 2004	27	81	13
Feb 2004	23	26	6
Mar 2004	18	31	0
Apr 2004	18	28	2
May 2004	34	48	9
Jun 2004	42	53	11
Jul 2004	46	57	9
Aug 2004	34	33	7
Sep 2004	33	39	12
Oct 2004	12	37	15
Nov 2004	13	41	8
Dec 2004	14	16	2
Jan 2005	23	99	38
Feb 2005	6	53	5
Mar 2005	9	46	4
Apr 2005	4	29	22
May 2005	4	29	10
Jun 2005	5	47	10
Jul 2005	3	27	4
Aug 2005	3	11	5
Sep 2005	7	30	14
Oct 2005	8	41	9
Nov 2005	5	30	6
Dec 2005	4	26	7
Jan 2006	5	25	13
Feb 2006	1	24	8
Mar 2006	3	29	17
Apr 2006	4	31	21
May 2006	7	30	11
Jun 2006	7	13	3
Jul 2006	3	12	8
Aug 2006	5	19	3
Sep 2006	6	35	12
Oct 2006	6	36	8
Nov 2006	3	34	13
Dec 2006	3	29	13
Jan 2007	2	29	3
Feb 2007	4	23	6
Mar 2007	12	29	5
Apr 2007	19	5	3
May 2007	5	12	4
Jun 2007	10	5	3
Jul 2007	5	3	3
Aug 2007	2	3	2
Sep 2007	31	17	7
Oct 2007	6	5	9
Nov 2007	8	5	7
Dec 2007	3	8	4
Jan 2008	5	2	1
Feb 2008	11	2	4
Mar 2008	5	3	6
Apr 2008	3	3	1
May 2008	19	4	6
Jun 2008	3	3	4
Jul 2008	28	1	0
Aug 2008	28	5	2
Sep 2008	14	4	5
Oct 2008	23	3	1
Nov 2008	11	3	2
Dec 2008	3	1	0
Jan 2009	1	1	0
Feb 2009	12	1	0
Mar 2009	8	0	2
Apr 2009	3	1	3
May 2009	2	2	3
Jun 2009	2	1	0
Jul 2009	6	2	0
Aug 2009	7	2	2
Sep 2009	13	1	0
Oct 2009	14	1	1
Nov 2009	21	1	3
Dec 2009	8	2	2
Jan 2010	7	4	4
Feb 2010	9	0	0
Mar 2010	8	2	1
Apr 2010	10	4	1
May 2010	13	1	3
Jun 2010	10	4	4
Jul 2010	34	5	0
Aug 2010	55	16	2
Sep 2010	48	7	2
Oct 2010	82	15	2
Nov 2010	71	27	2
Dec 2010	46	13	2
Jan 2011	96	15	3
Feb 2011	79	21	0
Mar 2011	79	21	3
Apr 2011	33	6	0
May 2011	99	6	2
Jun 2011	32	11	0
Jul 2011	40	1	2
Aug 2011	26	3	2
Sep 2011	92	23	3
Oct 2011	315	45	3
Nov 2011	111	86	3
Dec 2011	16	174	7
Jan 2012	20	134	2
Feb 2012	13	112	3
Mar 2012	8	155	5
Apr 2012	6	132	3
May 2012	19	153	7
Jun 2012	12	138	11
Jul 2012	9	107	7
Aug 2012	7	123	5
Sep 2012	9	126	17
Oct 2012	20	148	10
Nov 2012	27	113	7
Dec 2012	7	16	10
Jan 2013	27	33	11
Feb 2013	10	27	8
Mar 2013	13	24	4
Apr 2013	9	47	7
May 2013	20	42	7
Jun 2013	11	17	2
Jul 2013	5	12	3
Aug 2013	12	22	7
Sep 2013	7	19	13
Oct 2013	4	30	11
Nov 2013	11	28	8
Dec 2013	24	27	4
Jan 2014	9	36	4
Feb 2014	15	71	4
Mar 2014	19	32	7
Apr 2014	11	40	12
May 2014	23	43	3
Jun 2014	15	45	3
Jul 2014	19	29	3
Aug 2014	4	38	3
Sep 2014	13	30	2
Oct 2014	8	27	4
Nov 2014	9	21	2
Dec 2014	1	14	2
Jan 2015	6	12	2
Feb 2015	8	7	4
Mar 2015	20	11	5
Apr 2015	5	22	3
May 2015	6	30	5
Jun 2015	11	6	2
Jul 2015	9	13	1
Aug 2015	8	31	2
Sep 2015	8	9	1
Oct 2015	4	12	0
Nov 2015	10	24	4
Dec 2015	14	103	11
Jan 2016	20	38	0
Feb 2016	4	20	1
Mar 2016	7	2	4
Apr 2016	6	2	3
May 2016	4	6	8
Jun 2016	5	6	5
Jul 2016	8	2	5
Aug 2016	5	2	1
Sep 2016	11	6	2
Oct 2016	18	7	1
Nov 2016	12	26	3
Dec 2016	14	31	1
Jan 2017	6	3	3
Feb 2017	4	10	1
Mar 2017	2	9	2
Apr 2017	1	16	2
May 2017	3	17	0
Jun 2017	4	17	2
Jul 2017	19	18	0
Aug 2017	14	14	3
Sep 2017	10	10	2
Oct 2017	22	20	0
Nov 2017	55	56	6
Dec 2017	37	37	7
Jan 2018	24	22	2
Feb 2018	14	12	0
Mar 2018	34	33	1
Apr 2018	26	20	2
May 2018	28	28	1
Jun 2018	25	17	5
Jul 2018	19	15	4
Aug 2018	41	37	6
Sep 2018	87	87	0
Oct 2018	77	75	4
Nov 2018	112	110	4
Dec 2018	96	96	3
Jan 2019	59	56	0
Feb 2019	64	63	3
Mar 2019	37	35	8
Apr 2019	15	15	4
May 2019	12	12	5
Jun 2019	14	14	3
Jul 2019	9	9	5
Aug 2019	15	13	1
Sep 2019	21	21	4
Oct 2019	23	21	3
Nov 2019	22	22	5
Dec 2019	30	30	4
Jan 2020	38	37	1
Feb 2020	26	24	4
Mar 2020	27	23	1
Apr 2020	23	23	2
May 2020	35	34	3
Jun 2020	11	11	3
Jul 2020	23	21	5
Aug 2020	18	18	7
Sep 2020	58	58	11
Oct 2020	40	40	9
Nov 2020	31	31	10
Dec 2020	20	20	3
Jan 2021	21	17	2
Feb 2021	36	36	4
Mar 2021	30	28	4
Apr 2021	21	17	7
May 2021	10	10	2
Jun 2021	27	27	9
Jul 2021	14	14	9
Aug 2021	21	21	4
Sep 2021	50	50	12
Oct 2021	68	66	18
Nov 2021	36	36	21
Dec 2021	20	20	7
Jan 2022	17	15	2
Feb 2022	29	30	5
Mar 2022	31	29	5
Apr 2022	24	23	6
May 2022	28	29	12
Jun 2022	25	25	2
Jul 2022	15	15	0
Aug 2022	49	49	5
Sep 2022	63	70	16
Oct 2022	54	53	11
Nov 2022	55	58	8
Dec 2022	32	30	4
Jan 2023	71	71	5
Feb 2023	53	54	5
Mar 2023	17	18	8
Apr 2023	14	12	7
May 2023	17	17	12
Jun 2023	14	9	5
Jul 2023	26	27	9
Aug 2023	15	13	4
Sep 2023	32	33	6
Oct 2023	25	22	5
Nov 2023	24	21	7
Dec 2023	27	2	0
Jan 2024	52	1	1
Feb 2024	49	5	2
Mar 2024	92	2	2
Apr 2024	34	0	1
May 2024	35	0	0
Jun 2024	29	2	3
Jul 2024	29	2	1
Aug 2024	69	1	1
Sep 2024	28	1	1
Total	6008	7744	1511

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