Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene

(1) Background: Molybdenum cofactor deficiency type B (MOCODB, #252160) is a rare autosomal recessive metabolic disorder characterized by intractable seizures of neonatal-onset, muscular spasticity, accompanying with hypouricemia, elevated urinary sulfite levels and craniofacial dysmorphism. Thirty-...

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Detalles Bibliográficos
Autores principales: Jezela-Stanek, Aleksandra, Blaz, Witold, Gora, Artur, Bochenska, Malgorzata, Kusmierska, Katarzyna, Sykut-Cegielska, Jolanta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7602273/
https://www.ncbi.nlm.nih.gov/pubmed/33066491
http://dx.doi.org/10.3390/diagnostics10100821

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7602273/
https://www.ncbi.nlm.nih.gov/pubmed/33066491
http://dx.doi.org/10.3390/diagnostics10100821

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