The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexib...
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role
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Publisher
Cham: Springer International Publishing
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Language
English
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Publisher
Cham: Springer International Publishing
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Contents
Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease, often fatal in the first decade, causing severe intellectual disability, movement disorders and autonomic dysfunction. It is due to mutations in the gene coding for the AADC enzyme responsible for the synthesis of dopamine and serotonin. Using whole exome sequencing, w...
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Full title
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9121088
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9121088
Other Identifiers
ISSN
1420-682X
E-ISSN
1420-9071
DOI
10.1007/s00018-022-04343-w
