Mutational spectrum of Duchenne muscular dystrophy in Spain: study of 284 cases

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Original article

Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos

I. Vieiteza,b, P. Gallanoc,j, L. González-Queredac,j, S. Borregod,j, I. Marcosd,j, J.M. Milláne,j, T. Jairoe,j, C. Priorf, J. Molanof, M.J. Trujillo-Tiebasg,j, J. Gallego-Merlog,j, M. García-Barcinah, M. Fenollari, C. Navarrob,

Corresponding author

cnavfer@sergas.es

Corresponding author.

a Grupo de Patología Neonatal y Pediátrica, Enfermedades raras, Instituto de Investigación Biomédica de Ourense-Pontevedra-Vigo (IBI), Vigo, Spain

b Complexo Hospitalario Universitario de Vigo (CHUVI), SERGAS, Vigo, Spain

c Departamento de Genética, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain

d Departamento de Genética, Reproducción y Medicina fetal, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain

e Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, Spain

f Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain

g Departamento de Genética, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain

h Unidad de Genética, Hospital Universitario de Basurto, Vizcaya, Spain

i Sección de Genética Clínica, Servicio de Análisis Clínicos, Hospital Clínico San Carlos, Madrid, Spain

j CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Instituto de Salud Carlos III, Madrid, Spain

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Article information

ISSN: 21735808
Original language: English

DOI:10.1016/j.nrleng.2015.12.004

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2022 December	43	19	62
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2022 January	91	15	106
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2021 November	52	21	73
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2021 July	51	12	63
2021 June	46	9	55
2021 May	101	20	121
2021 April	167	18	185
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2021 January	87	18	105
2020 December	76	14	90
2020 November	46	15	61
2020 October	47	12	59
2020 September	52	16	68
2020 August	66	9	75
2020 July	71	21	92
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