MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB-Reference-Cited by-同舟云学术

MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

Published:2021-07-29 Issue:9 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Guevara‐Fujita María Luisa¹^ORCID,Huaman‐Dianderas Francia¹,Obispo Daisy¹,Sánchez Rodrigo¹,Barrenechea Victor¹,Rojas‐Málaga Diana¹²,Estrada‐Cuzcano Alejandro¹³,Trubnykova Milana⁴,Cornejo‐Olivas Mario⁵⁶,Marca Victoria⁵,Gallardo Bertha⁴,Dueñas‐Roque Milagros⁷,Protzel Ana⁷,Castañeda Carlos⁸,Abarca Hugo⁴^ORCID,Celis Luis⁹,La Serna‐Infantes Jorge¹⁰,Fujita Ricardo¹

Affiliation:

1. Centro de Genética y Biología Molecular Instituto de Investigación Facultad de Medicina Humana Universidad de San Martín de Porres Lima Peru

2. Laboratório de Genética Molecular Serviço de Genética Médica Hospital de Clínicas de Porto Alegre Rio Grande do Sul Brazil

3. Paris‐Saclay Institute of Neuroscience, CERTO‐Retina France, CNRS Université Paris‐Saclay Orsay91405France

4. Servicio de Genética y Errores Innatos del Metabolismo del Instituto Nacional de Salud del Niño Lima Peru

5. Neurogenetics Research Center Instituto Nacional de Ciencias Neurológicas Lima Peru

6. Center for Global Health Universidad Peruana Cayetano Heredia Lima Peru

7. Hospital Nacional Edgardo Rebagliati Martins EsSalud Lima Peru

8. Hospital Nacional Cayetano Heredia Lima Peru

9. Servicio de Genética Instituto de Salud del Niño San Borja Lima Peru

10. GenoCenter Lima Peru

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1759

Reference44 articles.

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1. Edad de diagnóstico de distrofia muscular de Duchenne en Perú 2023: un estudio transversal;Investigación e Innovación Clínica y Quirúrgica Pediátrica;2023-12-27

2. Advances in Dystrophinopathy Diagnosis and Therapy;Biomolecules;2023-08-28

3. An update on Becker muscular dystrophy;Current Opinion in Neurology;2023-08-21

4. Repetitive DNA Sequences in the Human Y Chromosome and Male Infertility;Frontiers in Cell and Developmental Biology;2022-07-13