Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants-Reference-Cited by-同舟云学术

Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants

Published:2021-06 Issue:2 Volume:133 Page:201-210
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Cotrina-Vinagre Francisco Javier,Rodríguez-García María Elena,Martín-Hernández Elena,Durán-Aparicio Cristina,Merino-López Abraham,Medina-Benítez Enrique,Martínez-Azorín Francisco

Funder

Instituto de Salud Carlos III

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

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1. High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures;International Journal of Molecular Sciences;2024-02-15

2. The Function of the NBAS Has Been Revealed: What about Its Multisystem Pathologies?;Russian Journal of Genetics;2023-04

3. The Function of the <i>NBAS</i> Has Been Revealed, Will the Same Happen with Its Multisystem Pathologies?;Генетика;2023-04-01

4. Origins of SOPH syndrome: A study of 93 Yakut patients with review of C‐terminal phenotype;Clinical Genetics;2023-03-21

5. A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects;Bone;2021-12