Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency - Concepedia

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Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency

21

Citations

9

References

2011

Year

Samira Achouitar, Jennifer Goldstein, Miski Mohamed, Stephanie Austin, Keri Boyette, Francoise Blanpain, Catherine Rehder, Priya S. Kishnani, Saskia B. Wortmann, Martin den Heijer,

Molecular Genetics and Metabolism

Phka2 GeneCommon MutationGenetic DisorderGeneticsInherited Metabolic DiseasePathologyMolecular GeneticsDisease Gene IdentificationVariant InterpretationMedicineVariable Phenotype

References

	Year	Citations

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