Article
The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.
Molecular genetics and metabolism - 1 Jan 2000
Wang Dong, Yang Hong, De Braganca Kevin C, Lu Jiesheng, Yu Shih Ling, Briones Paz, Lang Tim, De Vivo Darryl C
Abstract excerpt
Pyruvate carboxylase (PC) deficiency (OMIM, 266150) is a rare autosomal recessive disease. The revised PC gene structure described in this report consists of 20 coding exons and four non-coding exons at the 5'-untranslated region (5'-UTR). The gene codes for three transcripts due to alternative splicing: variant 1 (NM_000920.3), variant 2 (NM_022172.2) and variant 3 (BC011617.2). PC deficiency is manifested by...
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