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Items: 4

1.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
ArticlePubReaderPDF–960KCite
2.
The Molecular Basis of Pyruvate Carboxylase Deficiency: Mosaicism correlates with prolonged survival
Dong Wang, Hong Yang, Kevin C. De Braganca, Jiesheng Lu, Ling Yu Shih, Paz Briones, Darryl C. De Vivo
Mol Genet Metab. Author manuscript; available in PMC 2009 Sep 1.
Published in final edited form as: Mol Genet Metab. 2008; 95(1-2): 31–38. Published online 2008 Aug 3. doi: 10.1016/j.ymgme.2008.06.006
PMCID:
PMC2572257
ArticlePubReaderPDF–1015KCite
3.
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.
M A Carbone, N MacKay, M Ling, D E Cole, C Douglas, B Rigat, A Feigenbaum, J T Clarke, J C Haworth, C R Greenberg, L Seargeant, B H Robinson
Am J Hum Genet. 1998 Jun; 62(6): 1312–1319. doi: 10.1086/301884
PMCID:
PMC1377163
AbstractCite
4.
Structure, function and regulation of pyruvate carboxylase.
S Jitrapakdee, J C Wallace
Biochem J. 1999 May 15; 340(Pt 1): 1–16. doi: 10.1042/bj3400001
PMCID:
PMC1220216
SummaryPDF–396KCite

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