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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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| Pubblicato in: | Diagnostics (Basel) |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
MDPI
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7602273/ https://ncbi.nlm.nih.gov/pubmed/33066491 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics10100821 |
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