Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus

AJIT KADAKOL; BALJIT S SAPPAL; SIDDHARTHA S GHOSH; MARK LOWENHEIM; ABHIJIT CHOWDHURY; SUJIT CHOWDHURY; AMAL SANTRA; IRWIN M ARIAS; JAYANTA ROY CHOWDHURY; NAMITA ROY CHOWDHURY

doi:10.1136/jmg.38.4.244

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Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus

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	Abstract	Full	Pdf
Apr 2001	0	51	0
May 2001	0	9	0
Jun 2001	0	21	0
Jul 2001	0	11	0
Aug 2001	0	6	0
Sep 2001	0	4	0
Oct 2001	0	17	0
Nov 2001	0	33	0
Dec 2001	0	24	0
Jan 2002	0	38	0
Feb 2002	0	26	0
Mar 2002	0	21	0
Apr 2002	0	23	0
May 2002	0	13	1
Jun 2002	0	8	0
Jul 2002	0	12	0
Aug 2002	0	12	0
Sep 2002	0	9	0
Oct 2002	0	17	0
Nov 2002	0	13	0
Dec 2002	0	11	0
Jan 2003	0	17	0
Feb 2003	0	15	0
Mar 2003	0	14	0
Apr 2003	0	11	0
May 2003	0	14	0
Jun 2003	0	15	0
Jul 2003	0	78	0
Aug 2003	0	28	0
Sep 2003	0	15	0
Oct 2003	0	73	0
Nov 2003	0	25	0
Dec 2003	0	20	0
Jan 2004	0	72	0
Feb 2004	0	27	0
Mar 2004	0	38	0
Apr 2004	0	10	0
May 2004	0	38	0
Jun 2004	0	58	0
Jul 2004	1	77	2
Aug 2004	0	94	0
Sep 2004	0	117	0
Oct 2004	11	53	0
Nov 2004	15	61	1
Dec 2004	10	69	0
Jan 2005	8	55	0
Feb 2005	6	53	0
Mar 2005	17	50	0
Apr 2005	5	46	0
May 2005	12	66	1
Jun 2005	5	26	0
Jul 2005	7	34	0
Aug 2005	4	29	1
Sep 2005	6	31	0
Oct 2005	13	40	0
Nov 2005	11	54	0
Dec 2005	5	27	0
Jan 2006	8	54	0
Feb 2006	7	53	0
Mar 2006	11	46	1
Apr 2006	4	33	0
May 2006	5	23	3
Jun 2006	5	19	0
Jul 2006	6	27	0
Aug 2006	9	26	0
Sep 2006	0	19	0
Oct 2006	5	51	1
Nov 2006	3	32	2
Dec 2006	11	48	1
Jan 2007	3	34	0
Feb 2007	4	32	0
Mar 2007	7	41	0
Apr 2007	10	7	0
May 2007	14	11	0
Jun 2007	6	11	0
Jul 2007	14	15	0
Aug 2007	16	15	0
Sep 2007	10	7	0
Oct 2007	11	9	0
Nov 2007	10	12	0
Dec 2007	11	9	1
Jan 2008	11	9	0
Feb 2008	12	14	0
Mar 2008	11	14	0
Apr 2008	15	25	0
May 2008	16	7	0
Jun 2008	5	9	0
Jul 2008	11	8	0
Aug 2008	26	13	0
Sep 2008	19	6	0
Oct 2008	6	8	0
Nov 2008	9	4	0
Dec 2008	34	4	0
Jan 2009	18	9	0
Feb 2009	6	2	0
Mar 2009	14	6	0
Apr 2009	7	1	0
May 2009	8	5	0
Jun 2009	7	15	0
Jul 2009	8	4	0
Aug 2009	5	18	0
Sep 2009	9	5	0
Oct 2009	8	8	0
Nov 2009	7	2	0
Dec 2009	9	4	0
Jan 2010	4	1	0
Feb 2010	8	4	0
Mar 2010	11	9	0
Apr 2010	8	6	0
May 2010	7	7	0
Jun 2010	10	4	0
Jul 2010	9	6	0
Aug 2010	9	4	0
Sep 2010	12	15	0
Oct 2010	9	5	0
Nov 2010	6	10	0
Dec 2010	5	5	0
Jan 2011	9	5	0
Feb 2011	6	7	0
Mar 2011	3	5	0
Apr 2011	4	5	0
May 2011	12	4	0
Jun 2011	11	2	0
Jul 2011	8	2	0
Aug 2011	6	2	0
Sep 2011	8	3	0
Oct 2011	4	3	0
Nov 2011	21	8	0
Dec 2011	14	16	0
Jan 2012	5	6	0
Feb 2012	5	5	0
Mar 2012	5	8	0
Apr 2012	16	3	0
May 2012	8	7	0
Jun 2012	16	6	0
Jul 2012	14	32	0
Aug 2012	15	13	0
Sep 2012	13	11	0
Oct 2012	16	20	0
Nov 2012	17	9	0
Dec 2012	20	11	0
Jan 2013	32	16	0
Feb 2013	19	10	0
Mar 2013	17	7	0
Apr 2013	34	15	0
May 2013	64	17	0
Jun 2013	40	8	0
Jul 2013	41	16	0
Aug 2013	23	6	0
Sep 2013	16	63	0
Oct 2013	9	8	0
Nov 2013	9	8	0
Dec 2013	11	8	0
Jan 2014	40	11	0
Feb 2014	19	13	0
Mar 2014	12	12	0
Apr 2014	18	14	0
May 2014	10	17	0
Jun 2014	18	28	0
Jul 2014	19	27	0
Aug 2014	7	26	0
Sep 2014	38	16	0
Oct 2014	27	13	0
Nov 2014	22	9	0
Dec 2014	45	8	0
Jan 2015	33	7	0
Feb 2015	22	5	0
Mar 2015	18	17	0
Apr 2015	33	18	0
May 2015	24	30	0
Jun 2015	48	7	0
Jul 2015	34	7	0
Aug 2015	53	5	0
Sep 2015	162	5	0
Oct 2015	16	4	0
Nov 2015	86	8	0
Dec 2015	109	1	0
Jan 2016	23	2	0
Feb 2016	16	6	0
Mar 2016	58	5	0
Apr 2016	14	3	0
May 2016	15	9	0
Jun 2016	16	3	0
Jul 2016	43	14	0
Aug 2016	6	4	0
Sep 2016	7	7	0
Oct 2016	53	11	0
Nov 2016	24	13	0
Dec 2016	17	11	0
Jan 2017	62	24	0
Feb 2017	2	15	0
Mar 2017	1	30	0
Apr 2017	1	15	0
May 2017	1	20	0
Jun 2017	5	22	0
Jul 2017	22	19	0
Aug 2017	22	22	0
Sep 2017	36	30	0
Oct 2017	29	21	0
Nov 2017	32	30	0
Dec 2017	10	6	0
Jan 2018	27	17	0
Feb 2018	17	13	0
Mar 2018	20	8	0
Apr 2018	16	14	0
May 2018	22	22	0
Jun 2018	25	17	0
Jul 2018	22	22	0
Aug 2018	16	14	0
Sep 2018	16	14	0
Oct 2018	25	25	0
Nov 2018	28	26	0
Dec 2018	52	50	0
Jan 2019	29	27	0
Feb 2019	19	18	0
Mar 2019	20	18	0
Apr 2019	10	10	0
May 2019	28	30	0
Jun 2019	34	34	0
Jul 2019	14	14	0
Aug 2019	18	16	0
Sep 2019	13	11	0
Oct 2019	39	35	0
Nov 2019	26	22	0
Dec 2019	96	95	0
Jan 2020	38	35	0
Feb 2020	27	26	0
Mar 2020	27	27	0
Apr 2020	19	17	0
May 2020	24	24	0
Jun 2020	21	21	0
Jul 2020	32	26	0
Aug 2020	26	21	0
Sep 2020	32	20	0
Oct 2020	45	44	0
Nov 2020	75	65	0
Dec 2020	21	16	0
Jan 2021	17	17	0
Feb 2021	21	19	0
Mar 2021	20	14	0
Apr 2021	13	13	0
May 2021	5	5	0
Jun 2021	35	35	0
Jul 2021	26	26	0
Aug 2021	34	32	0
Sep 2021	42	42	0
Oct 2021	43	34	0
Nov 2021	25	24	0
Dec 2021	21	21	0
Jan 2022	25	21	0
Feb 2022	34	30	0
Mar 2022	24	21	0
Apr 2022	48	28	0
May 2022	32	30	0
Jun 2022	51	56	0
Jul 2022	27	27	0
Aug 2022	38	38	0
Sep 2022	70	71	0
Oct 2022	34	30	0
Nov 2022	24	19	0
Dec 2022	13	12	0
Jan 2023	13	12	0
Feb 2023	29	27	0
Mar 2023	21	19	0
Apr 2023	12	8	0
May 2023	35	29	0
Jun 2023	22	18	0
Jul 2023	24	16	0
Aug 2023	9	9	0
Sep 2023	19	21	0
Oct 2023	151	150	0
Nov 2023	18	16	0
Dec 2023	35	9	0
Jan 2024	41	4	0
Feb 2024	40	2	0
Mar 2024	31	5	0
Apr 2024	14	0	0
May 2024	42	5	0
Jun 2024	29	2	0
Jul 2024	42	1	0
Aug 2024	49	1	0
Sep 2024	27	1	0
Total	5148	5798	15

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