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Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis?

Detalles Bibliográficos
Autores principales:	Nakagama, Yu, Hamanaka, Kohei, Mimaki, Masakazu, Shintaku, Haruo, Miyatake, Satoko, Matsumoto, Naomichi, Hirohata, Koji, Inuzuka, Ryo, Oka, Akira
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2019
Materias:	Clinical/Scientific Notes
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454308/ https://www.ncbi.nlm.nih.gov/pubmed/31041399 http://dx.doi.org/10.1212/NXG.0000000000000319

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