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Publication | Open Access

Intragenic deletions of <i>ALDH7A1</i> in pyridoxine-dependent epilepsy caused by <i>Alu</i> - <i>Alu</i> recombination

DOIFull Paper Access

34

Citations

11

References

2015

Year

Heather C. Mefford, Matthew Zemel, Eileen Geraghty, Joseph Cook, Peter T. Clayton, Karl Paul, Barbara Plecko, Philippa B. Mills, Douglas R. Nordli, Sídney M. Gospe
Neurology

Abstract

Patients with clinical pyridoxine-dependent epilepsy and a single identifiable mutation in ALDH7A1 warrant further investigation for copy number changes involving the ALHD7A1 gene.

References

YearCitations

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