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Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report
Abstract Background PPP3CA gene encodes the catalytic subunit A of a calcium-dependent protein phosphatase called calcineurin. However, two distinct mechanisms in PPP3CA deficiency would cause two clinically different diseases. Gain-of-function mutations in the autoinhibitory domain at the C-terminu...
Gorde:
| Egile Nagusiak: | , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMC
2020-06-01
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| Saila: | BMC Pediatrics |
| Gaiak: | |
| Sarrera elektronikoa: | http://link.springer.com/article/10.1186/s12887-020-02213-7 |
| Etiketak: |
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