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Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy
Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy
2019
Yanagishita Tomoe
Yamamoto-Shimojima Keiko
Koike Takayoshi
Nasu Hirosato
Takahashi Yukitoshi
Akiyama Tomoyuki
Nagata Satoru
Yamamoto Toshiyuki
Keywords:
Compound heterozygosity
Genetics
Mutation
Allele
Pyridoxine-dependent epilepsy
Gene
Biology
Correction
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