Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome - Concepedia

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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

DOI Full Paper Access

85

Citations

18

References

2018

Year

Shereen G. Ghosh, Kerstin Becker, He Huang, Tracy Dixon‐Salazar, Guoliang Chai, Vincenzo Salpietro, Lihadh Al‐Gazali, Quinten Waisfisz, Haicui Wang, Keith K. Vaux,

The American Journal of Human Genetics

Biallelic MutationsGenetic DisorderEncoding Adp-ribosylhydrolase 3GeneticsInherited Metabolic DiseaseMolecular BiologyDegenerative DiseaseMedicine

References

	Year	Citations

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