The Molecular Basis of Pyruvate Carboxylase Deficiency: Mosaicism correlates with prolonged survival

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 spli...

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Bibliografiske detaljer
Main Authors: Wang, Dong, Yang, Hong, De Braganca, Kevin C., Lu, Jiesheng, Yu Shih, Ling, Briones, Paz, De Vivo, Darryl C.
Format: Artigo
Sprog:Inglês
Udgivet: 2008
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2572257/
https://ncbi.nlm.nih.gov/pubmed/18676167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2008.06.006
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