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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Detalles Bibliográficos
Autor principal: Froukh, Tawfiq
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2019
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6861483/
https://www.ncbi.nlm.nih.gov/pubmed/31777525
http://dx.doi.org/10.12669/pjms.35.6.1181

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6861483/
https://www.ncbi.nlm.nih.gov/pubmed/31777525
http://dx.doi.org/10.12669/pjms.35.6.1181

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