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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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Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: Li, Mengting, Yang, Qi, Yi, Sheng, Qin, Zailong, Luo, Jingsi, Fan, Xin
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7434608/
https://ncbi.nlm.nih.gov/pubmed/32519510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1303
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