A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset-Reference-Cited by-同舟云学术

A novel dominant mutation inCRYABgene leading to a severe phenotype with childhood onset

Published:2020-05-18 Issue:8 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Marcos Ana T.¹²³^ORCID,Amorós Diego⁴^ORCID,Muñoz-Cabello Beatriz⁵^ORCID,Galán Francisco⁴^ORCID,Rivas Infante Eloy⁶^ORCID,Alcaraz‐Mas Luis⁴^ORCID,Navarro‐Pando José M.¹²³^ORCID

Affiliation:

1. Unidad de Genética INEBIR (Instituto para el estudio de la Biología de la Reproducción Humana) Seville Spain

2. Cátedra de Reproducción y Genética Humana INEBIR/Universidad Europea del Atlántico Santander Spain

3. FUNIBER (Fundación Universitaria Iberoamericana) Barcelona Spain

4. BioArray Universidad Miguel Hernández de Elche Elche Alicante Spain

5. Sección de Neuropediatría Hospital Virgen del Rocío Sevilla Spain

6. Unidad de Neuropatología Hospital Virgen del Rocío Sevilla Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1290

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5. Probing Dynamic Conformations of the High-Molecular-Weight αB-Crystallin Heat Shock Protein Ensemble by NMR Spectroscopy

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