A novel genetic variant in the NM_000169.2 region of the GLA gene (p.Gly163*) responsible for Fabry disease

Robles-Mezcua, Ainhoa; Morcillo-Hidalgo, Luis; Martín-Velázquez, Mónica; León-Fradejas, Miriam; García-Pinilla, José Manuel

doi:10.1016/j.rec.2021.01.004

Revista Española de Cardiología (English Edition)

ISSN: 1885-5857

Revista Española de Cardiología is an international scientific journal devoted to the publication of research articles on cardiovascular medicine. The journal, published since 1947, is the official publication of the Spanish Society of Cardiology and founder of the REC Publications journal family. Articles are published in both English and Spanish in its electronic edition.

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4.753

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6.5

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0.955

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SNIP 2020

0.703

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Vol. 74. Issue 8.

Pages 712-714 (August 2021)

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Vol. 74. Issue 8.

Pages 712-714 (August 2021)

Scientific letter

DOI: 10.1016/j.rec.2021.01.004

A novel genetic variant in the NM_000169.2 region of the GLA gene (p.Gly163*) responsible for Fabry disease

Una nueva variante genética en la región NM_000169.2 del gen GLA (p.Gly163*) causante de la enfermedad de Fabry

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Ainhoa Robles-Mezcuaa,b,

Corresponding author

ainhoa.mezcua@gmail.com

Corresponding author:

, Luis Morcillo-Hidalgoa,b, Mónica Martín-Velázquezc, Miriam León-Fradejasd, José Manuel García-Pinillaa,b

a Unidad de Insuficiencia Cardiaca y Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitario Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga (IBIMA), Málaga, Spain

b Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain

c Servicio de Nefrología, Hospital Universitario Virgen de la Victoria, Málaga, Spain

d Servicio de Anatomía Patológica, Hospital Regional Universitario, Málaga, Spain

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