Article

The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review

2022-03-25

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: <italic>PIGA</italic> (PIG class A) gene codes the PIG-A protein, which is a catalytic subunit of GPI-GlcNAc transferase. GPI-anchored proteins play important roles in the metabolism of mammals. Somatic variants of <italic>PIGA</italic> genes of bone marrow hematopoietic stem cells often result in Paroxysmal Nocturnal Haemoglobinuria, and the germline <italic>PI...

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Literature Corpus work: b836a15d-a82d-5b0b-8f84-433a429f5171
DOI: 10.21203/rs.3.rs-1456392/v1

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