Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X) - Concepedia

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Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)

DOI Full Paper Access

34

Citations

13

References

2009

Year

Tod Fullston, Louise Brueton, Tracey Willis, Sunny Philip, Lesley MacPherson, Merran Finnis, Jozef Gécz, Jenny Morton

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyPathologyDisease Gene IdentificationOhtahara SyndromeMedicineInborn Error Of ImmunityClinical Genetics

References

	Year	Citations

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