Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG-Reference-Cited by-同舟云学术

Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG

Published:2021-09 Issue: Volume:28 Page:100781
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

González-Domínguez C.A.,Villarroel C.E.,Rodríguez-Morales M.,Manrique-Hernández S.,González-Jaimes A.,Olvera-Rodriguez F.,Beutelspacher K.,Molina-Garay C.,Carrillo-Sánchez K.,Flores-Lagunes L.L.,Jiménez-Olivares M.,Muñoz-Rivas A.,Cruz-Muñoz M.E.,Mora-Montes H.M.,Salinas-Marín R.,Alaez-Verson C.,Martínez-Duncker I.

Funder

Consejo Nacional de Ciencia y Tecnología

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference37 articles.

1. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: diagnosis, treatment and follow up;Altassan;J. Inherit. Metab. Dis.,2019

2. Conformational response to ligand binding in Phosphomannomutase2: insights into inborn glycosylation disorder;Andreotti;J. Biol. Chem.,2014

3. Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls;Asteggiano;Pediatr. Res.,2018

4. A new insight into PMM2 mutations in the French population;le Bizec;Hum. Mutat.,2005

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