Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay
Year: 2015
Type: article
Study design: Case Report
Source: Pediatric Neurology
Institution: Mayo Clinic
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W2176964840
