Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia.

Abstract excerpt

Full-length cDNA clone encoding human glycine decarboxylase (P-protein) was isolated from the human placental lambda gt11 expression library using specific antibodies. This clone was 3,705 bp in length and encoded 1,020 amino acids. We studied the structure of the mutant P-protein mRNA expressed in the liver of a patient with nonketotic hyperglycinemia (NKH) deficient of P-protein. A three-base deletion, which...

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