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Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia

BACKGROUND: Recently hyperphenylalaninemia (HPA) caused by variants in DNAJC12 was reported and this suggested a new strategy for diagnosis. But DNAJC12‐associated HPA is a rare in Chinese population so far. METHODS: The clinical information and blood samples from the patient and his family members...

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Detalles Bibliográficos
Autores principales:	Li, Mengting, Yang, Qi, Yi, Sheng, Qin, Zailong, Luo, Jingsi, Fan, Xin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434608/ https://www.ncbi.nlm.nih.gov/pubmed/32519510 http://dx.doi.org/10.1002/mgg3.1303

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