Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene

BERARDINO PORFIRIO; ILARIA CHIARELLI; CLAUDIO GRAZIANO; ALESSANDRO MANNONI; AMELIA MORRONE; ENRICO ZAMMARCHI; DANIEL BELTRÁN-VALERO DE BERNABÉ; SANTIAGO RODRÍGUEZ DE CÓRDOBA

doi:10.1136/jmg.37.4.309

Article metrics

Letters to the editor

Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene

Online download statistics by month:

Online download statistics by month: March 2000 to August 2024

	Abstract	Full	Pdf
Mar 2000	0	2	0
Apr 2000	0	20	2
May 2000	0	3	1
Jun 2000	0	10	1
Jul 2000	0	2	0
Aug 2000	0	1	0
Oct 2000	0	2	0
Nov 2000	0	9	1
Jan 2001	0	1	0
Mar 2001	0	1	0
Apr 2001	0	3	0
May 2001	0	1	0
Jul 2001	0	1	0
Aug 2001	0	1	1
Oct 2001	0	1	0
Nov 2001	0	4	0
Dec 2001	0	3	0
Jan 2002	0	6	1
Feb 2002	0	3	1
Mar 2002	0	1	0
Apr 2002	0	3	0
May 2002	0	6	0
Jun 2002	0	4	0
Jul 2002	0	1	0
Aug 2002	0	3	1
Sep 2002	0	7	0
Oct 2002	0	8	5
Nov 2002	0	4	6
Dec 2002	0	1	0
Jan 2003	0	1	0
Feb 2003	0	3	0
Mar 2003	0	3	0
Apr 2003	0	5	0
May 2003	0	5	1
Jun 2003	0	1	0
Jul 2003	0	22	1
Aug 2003	0	9	0
Sep 2003	0	11	1
Oct 2003	0	15	0
Nov 2003	0	14	0
Dec 2003	0	15	1
Jan 2004	0	53	2
Feb 2004	0	10	3
Mar 2004	0	16	1
Apr 2004	0	9	1
May 2004	0	37	2
Jun 2004	0	41	1
Jul 2004	0	46	0
Aug 2004	0	45	1
Sep 2004	0	60	2
Oct 2004	10	43	2
Nov 2004	11	45	4
Dec 2004	7	24	2
Jan 2005	7	22	0
Feb 2005	4	12	1
Mar 2005	6	29	1
Apr 2005	1	20	0
May 2005	1	27	2
Jun 2005	3	18	1
Jul 2005	1	10	7
Aug 2005	0	9	2
Sep 2005	0	11	5
Oct 2005	4	6	2
Nov 2005	5	25	3
Dec 2005	1	7	2
Jan 2006	0	13	1
Feb 2006	0	3	1
Mar 2006	0	16	6
Apr 2006	0	11	2
May 2006	4	4	2
Jun 2006	1	7	1
Jul 2006	1	4	0
Aug 2006	0	4	0
Sep 2006	4	10	3
Oct 2006	1	10	1
Nov 2006	9	35	13
Dec 2006	1	9	0
Jan 2007	3	13	3
Feb 2007	8	13	0
Mar 2007	4	16	3
Apr 2007	1	0	0
May 2007	6	4	3
Jun 2007	4	6	2
Jul 2007	1	9	1
Aug 2007	2	0	0
Sep 2007	4	2	3
Oct 2007	10	3	3
Nov 2007	12	12	4
Dec 2007	13	1	4
Jan 2008	2	1	0
Feb 2008	2	8	3
Mar 2008	13	6	5
Apr 2008	9	3	2
May 2008	1	0	0
Jun 2008	3	3	0
Jul 2008	3	3	2
Aug 2008	9	3	1
Sep 2008	7	7	1
Oct 2008	2	4	1
Nov 2008	2	7	4
Dec 2008	2	5	0
Jan 2009	5	3	2
Feb 2009	8	3	2
Mar 2009	3	5	0
Apr 2009	2	8	3
May 2009	6	2	0
Jun 2009	1	0	0
Jul 2009	6	3	0
Aug 2009	4	0	1
Sep 2009	2	1	1
Oct 2009	4	1	0
Nov 2009	3	6	4
Dec 2009	5	3	1
Jan 2010	1	0	1
Feb 2010	2	3	0
Mar 2010	1	1	1
Apr 2010	2	0	0
May 2010	2	0	0
Jul 2010	1	1	1
Aug 2010	4	5	2
Oct 2010	1	1	0
Nov 2010	2	0	0
Dec 2010	3	5	1
Jan 2011	7	1	1
Feb 2011	3	1	0
Mar 2011	3	2	0
May 2011	8	0	1
Jun 2011	1	0	0
Jul 2011	2	0	1
Aug 2011	14	0	0
Sep 2011	8	0	1
Oct 2011	2	0	0
Nov 2011	12	8	7
Dec 2011	1	7	4
Jan 2012	6	9	46
Feb 2012	5	5	26
Mar 2012	2	5	2
Apr 2012	7	5	7
May 2012	9	4	3
Jun 2012	8	3	10
Jul 2012	9	4	4
Aug 2012	10	4	2
Sep 2012	7	3	0
Oct 2012	5	6	2
Nov 2012	0	4	3
Dec 2012	0	3	2
Jan 2013	0	7	0
Feb 2013	0	4	4
Mar 2013	0	6	0
Apr 2013	0	3	3
May 2013	0	6	13
Jun 2013	1	3	0
Jul 2013	4	4	0
Aug 2013	3	2	0
Sep 2013	2	2	3
Oct 2013	2	0	1
Nov 2013	3	4	3
Dec 2013	7	8	2
Jan 2014	2	4	3
Feb 2014	2	6	1
Mar 2014	9	7	0
Apr 2014	10	10	40
May 2014	7	7	0
Jun 2014	2	5	2
Jul 2014	9	15	39
Aug 2014	5	3	0
Sep 2014	5	12	1
Oct 2014	3	4	3
Nov 2014	4	3	2
Dec 2014	3	2	0
Jan 2015	3	2	0
Feb 2015	0	0	6
Mar 2015	7	0	5
Apr 2015	8	11	5
May 2015	1	10	0
Jun 2015	2	8	0
Jul 2015	10	4	1
Aug 2015	2	4	0
Sep 2015	1	13	0
Oct 2015	4	0	6
Nov 2015	3	3	2
Dec 2015	3	2	0
Jan 2016	55	3	49
Feb 2016	4	2	1
Mar 2016	5	3	7
Apr 2016	9	2	7
May 2016	4	4	4
Jun 2016	3	5	2
Jul 2016	7	6	5
Aug 2016	7	5	14
Sep 2016	7	6	4
Oct 2016	3	2	0
Nov 2016	9	9	0
Dec 2016	6	7	0
Jan 2017	10	5	1
Feb 2017	1	1	0
Mar 2017	0	10	2
Apr 2017	0	13	1
May 2017	0	13	3
Jun 2017	3	13	2
Jul 2017	18	17	6
Aug 2017	15	15	0
Sep 2017	24	22	4
Oct 2017	19	17	1
Nov 2017	15	13	2
Dec 2017	9	7	0
Jan 2018	16	14	5
Feb 2018	23	21	11
Mar 2018	125	109	5
Apr 2018	15	13	4
May 2018	45	45	5
Jun 2018	20	18	1
Jul 2018	16	10	2
Aug 2018	56	56	3
Sep 2018	21	21	1
Oct 2018	31	29	2
Nov 2018	44	44	3
Dec 2018	38	38	3
Jan 2019	34	33	3
Feb 2019	29	29	5
Mar 2019	13	11	5
Apr 2019	3	3	2
May 2019	17	16	7
Jun 2019	9	9	1
Jul 2019	5	6	4
Aug 2019	5	5	3
Sep 2019	2	2	4
Oct 2019	6	6	2
Nov 2019	5	6	4
Dec 2019	9	5	4
Jan 2020	22	18	2
Feb 2020	5	3	3
Mar 2020	5	3	2
Apr 2020	3	3	2
May 2020	10	8	2
Jun 2020	9	8	6
Jul 2020	12	6	1
Aug 2020	9	7	5
Sep 2020	15	9	4
Oct 2020	13	11	0
Nov 2020	9	9	4
Dec 2020	20	12	2
Jan 2021	13	8	5
Feb 2021	7	7	1
Mar 2021	14	14	2
Apr 2021	2	0	1
May 2021	0	0	4
Jun 2021	2	2	1
Jul 2021	2	2	4
Aug 2021	4	5	3
Sep 2021	9	10	3
Oct 2021	9	6	16
Nov 2021	4	4	10
Dec 2021	13	13	1
Jan 2022	30	30	5
Feb 2022	37	37	1
Mar 2022	61	61	3
Apr 2022	65	65	1
May 2022	55	53	8
Jun 2022	53	52	7
Jul 2022	58	53	6
Aug 2022	75	76	3
Sep 2022	67	65	9
Oct 2022	28	28	4
Nov 2022	55	55	1
Dec 2022	59	57	2
Jan 2023	51	48	2
Feb 2023	82	80	6
Mar 2023	45	45	7
Apr 2023	63	60	18
May 2023	38	34	5
Jun 2023	51	51	0
Jul 2023	65	63	3
Aug 2023	49	49	5
Sep 2023	14	16	4
Oct 2023	14	14	3
Nov 2023	9	9	2
Dec 2023	8	2	1
Jan 2024	5	0	1
Feb 2024	27	1	1
Mar 2024	23	0	0
Apr 2024	5	0	0
May 2024	26	1	0
Jun 2024	13	1	0
Jul 2024	22	0	0
Aug 2024	35	1	1
Total	2848	3429	830

Log in using your username and password

Main menu

Log in using your username and password

You are here

Online download statistics by month:

Online download statistics by month: March 2000 to August 2024

Read the full text or download the PDF:

Log in using your username and password