Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia

Galactosemia is a metabolic disorder caused by mutations in the GALT gene [1,2]. We encountered a patient heterozygous for a known pathogenic H132Q mutation and a novel S222N variant of unknown significance [3]. Reminiscent of patients with the S135L mutation, our patient had loss of GALT enzyme act...

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Detalles Bibliográficos
Autores principales: Cocanougher, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D׳Aco, Kristin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Data Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4509990/
https://www.ncbi.nlm.nih.gov/pubmed/26217714
http://dx.doi.org/10.1016/j.dib.2015.01.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4509990/
https://www.ncbi.nlm.nih.gov/pubmed/26217714
http://dx.doi.org/10.1016/j.dib.2015.01.001

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