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Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene
Dopa-responsive dystonia due to sepiapterin reductase deficiency (OMIM#612716) is caused by recessive mutations in the gene encoding sepiapterin reductase (SPR), which plays an important role in the biosynthesis of tetrahydrobiopterin (BH4). One Jordanian patient to first cousin parents is reported...
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| Publicado no: | Pak J Med Sci |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Professional Medical Publications
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6861483/ https://ncbi.nlm.nih.gov/pubmed/31777525 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12669/pjms.35.6.1181 |
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