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Paper Details

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Am J Hum Genet
97
2017
5-hydroxytryptophan, BH4, DNAJC12, DNAJC12 deficiency, DNAJC12 mutations, Dystonia, HPA, Hyperphenylalaninemia, Intellectual Disability, L-dopa, PAH, PAH enzyme, PKU, Phenylketonuria, children, dopamine, dystonia, fibroblasts, heat shock co-chaperone family member, hyperphenylalaninemia, inborn error of metabolism, intellectual disability, neurodevelopmental delay, neurotransmitter (dopamine, neurotransmitter deficiencies, phenylalanine, phenylalanine hydroxylase, phenylalanine hydroxylase deficiency, phenylalanine, tyrosine, and tryptophan hydroxylases, serotonin, tetrahydrobiopterin, tetrahydrobiopterin (BH4) deficiency, tryptophan, tyrosine
Author NameAffiliation
Edward L HuttlinHarvard Medical School
Jean-Fran??ois BenoistRobert-Debre University Hospital
May Christine V MalicdanNational Human Genome Research Institute, Inova Translational Medicine Institute, USA NIH Undiagnosed Diseases Program
May Christine V MalicdanNational Human Genome Research Institute, Inova Translational Medicine Institute, USA NIH Undiagnosed Diseases Program
Tim M StromInstitute of Human Genetics, Technische Universitat Munchen, Germany Institute of Human Genetics
Thomas MeitingerInstitute of Human Genetics, Technische Universitat Munchen, Germany Institute of Human Genetics
Thomas MeitingerInstitute of Human Genetics, Technische Universitat Munchen, Germany Institute of Human Genetics
James C MullikinNational Human Genome Research Institute
James C MullikinNational Human Genome Research Institute
William A Gahl
William A Gahl
J. Wade HarperHarvard Medical School
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