Identification of two novel DNAJC12 gene variants in a patient with mild hyperphenylalaninemia
Author:
Funder
National Key Research and Development Program of China
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference23 articles.
1. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability;Anikster;Am. J. Hum. Genet.,2017
2. RNA splicing in human disease and in the clinic;Baralle;Clin. Sci.,2017
3. Phenylketonuria;Blau;Lancet,2010
4. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies;Blau;Mol. Genet. Metab.,2011
5. Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment;Brennenstuhl;Neuropediatrics,2019
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Next‐generation sequencing for genetic testing of hearing loss populations;Clinica Chimica Acta;2024-01
2. DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings;Molecular Genetics and Metabolism Reports;2023-12
3. DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration;Movement Disorders;2023-11-28
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