Compound heterozygosis for intrón 9 + 1 g > T and Leu 850pro mutations in the SLC12A3 gene in Gitelman's syndrome

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Heterocigosis compuesta para las mutaciones Intron 9 + 1 g > T y Leu850pro en el gen SLC12A3 en el Síndrome de Gitelman

Alicia García Péreza, Teresa Oleab, Carlos Carameloc, Eliecer Cotod, Fernando Santose

a Servicio de Nefrología, Fundación Jiménez Díaz-Capio, Madrid, Madrid, España,

b 3Hospital La Paz. Universidad Autónoma de Madrid, Madrid, Madrid, España,

c Servicio de Nefrología, Fundación Jiménez Díaz-Capio, Madrid, MadridMadrid, España,

d 1Unidad de Genética Molecular Hospital Central de Asturias e Instituto de Estudios Nefrológicos. Asturias Asturias España,

e Unidad de Nefrología pediátrica, Hospital Central de Asturias e Instituto de Estudios Nefrológicos. Asturias Asturias España,

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ISSN: 20132514
Original language: English

DOI:

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2024 November	36	40	76
2024 October	31	44	75
2024 September	49	35	84
2024 August	52	66	118
2024 July	39	31	70
2024 June	53	45	98
2024 May	48	31	79
2024 April	38	35	73
2024 March	37	20	57
2024 February	45	34	79
2024 January	37	23	60
2023 December	33	26	59
2023 November	42	39	81
2023 October	79	33	112
2023 September	39	33	72
2023 August	30	29	59
2023 July	29	27	56
2023 June	32	19	51
2023 May	40	25	65
2023 April	25	22	47
2023 March	26	14	40
2023 February	24	18	42
2023 January	23	28	51
2022 December	36	25	61
2022 November	37	29	66
2022 October	35	46	81
2022 September	41	30	71
2022 August	44	40	84
2022 July	25	36	61
2022 June	35	20	55
2022 May	36	34	70
2022 April	24	35	59
2022 March	34	36	70
2022 February	23	30	53
2022 January	23	26	49
2021 December	37	38	75
2021 November	32	32	64
2021 October	33	36	69
2021 September	33	41	74
2021 August	25	23	48
2021 July	35	29	64
2021 June	18	14	32
2021 May	32	33	65
2021 April	57	23	80
2021 March	37	21	58
2021 February	25	22	47
2021 January	31	18	49
2020 December	43	10	53
2020 November	25	16	41
2020 October	19	14	33
2020 September	18	10	28
2020 August	43	8	51
2020 July	25	8	33
2020 June	28	15	43
2020 May	32	11	43
2020 April	37	12	49
2020 March	56	10	66
2020 February	39	12	51
2020 January	31	20	51
2019 December	36	17	53
2019 November	33	9	42
2019 October	698	9	707
2019 September	23	12	35
2019 August	8	6	14
2019 July	14	21	35
2019 June	19	8	27
2019 May	10	6	16
2019 April	41	21	62
2019 March	20	14	34
2019 February	19	20	39
2019 January	30	17	47
2018 December	47	25	72
2018 November	62	18	80
2018 October	82	12	94
2018 September	37	11	48
2018 August	26	10	36
2018 July	33	9	42
2018 June	31	10	41
2018 May	30	12	42
2018 April	46	6	52
2018 March	40	6	46
2018 February	27	5	32
2018 January	26	6	32
2017 December	43	12	55
2017 November	20	2	22
2017 October	30	10	40
2017 September	41	10	51
2017 August	47	7	54
2017 July	34	16	50
2017 June	28	10	38
2017 May	30	9	39
2017 April	28	5	33
2017 March	13	6	19
2017 February	21	6	27
2017 January	21	9	30
2016 December	38	6	44
2016 November	47	9	56
2016 October	70	10	80
2016 September	77	4	81
2016 August	104	2	106
2016 July	107	3	110
2016 June	83	0	83
2016 May	121	0	121
2016 April	65	0	65
2016 March	84	0	84
2016 February	83	0	83
2016 January	81	0	81
2015 December	85	0	85
2015 November	60	0	60
2015 October	57	0	57
2015 September	50	0	50
2015 August	53	0	53
2015 July	32	0	32
2015 June	40	0	40
2015 May	71	0	71
2015 April	10	0	10

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