Article

Case report: Compound heterozygous mutations in AP4M1 gene identified in a Chinese infant with Infantile Spasms and Global developmental delay

2021-01-25

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Adaptor protein complex-4 (AP-4), a heterotetrameric protein complex, plays an important role in vesicle trafficking in neurons. Mutations in genes affecting different subunits of AP-4, including <italic>AP4B1, AP4E1, AP4S1, </italic>and <italic>AP4M1</italic>, have been recently associated with spastic tetraplegia, developmental delay and intellectual disabilit...

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Literature Corpus work: 8f62cdad-d8b7-56bd-9b9e-315c7b4888d5
DOI: 10.21203/rs.3.rs-151765/v1

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