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Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling - Journal of Human Genetics

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Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling - Journal of Human Genetics

Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive neurotransmitter disorder caused by pathogenic DOPA decarboxylase (DDC) variants. We previously reported Japanese siblings with AADC deficiency, which was confirmed by the lack of enzyme activity; however, only a heterozygous missense variant was detected. We therefore performed targeted long-read sequencing by adaptive sampling to identify any missing variants.

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Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling - Journal of Human Genetics

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Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling - Journal of Human Genetics

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