Article

In Search of the Hidden Protein: Optimization of Detection Strategies for autism-associated Activity-Dependent Neuroprotective Protein (ADNP) mutants.

2022-08-19

Abstract excerpt

Heterozygous de novo mutations in the Activity-Dependent Neuroprotective Homeobox ( ADNP ) protein were found to be the common cause underlying the Helsmoortel-Van der Aa syndrome (HVDAS). With most of the patient mutations situated in the last exon, we previously demonstrated the predicted escape from nonsense-mediated decay by detecting mutant ADNP mRNA. In this study wild-type and mutant forms of ADNP are inves...

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Literature Corpus work: c1a6920a-ed5c-5950-9761-f9cacc170840
DOI: 10.21203/rs.3.rs-1954095/v1

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