
		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources

References

These sources were used to develop the Genetics Home Reference gene summary on the PCCB gene.

Desviat LR, Clavero S, Perez-Cerdá C, Navarrete R, Ugarte M, Perez B. New splicing mutations in propionic acidemia. J Hum Genet. 2006;51(11):992-7. Epub 2006 Oct 19. PubMed citation
Desviat LR, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P, Clavero S, Ugarte M. Propionic acidemia: mutation update and functional and structural effects of the variant alleles. Mol Genet Metab. 2004 Sep-Oct;83(1-2):28-37. Review. PubMed citation
Entrez Gene
Pérez B, Desviat LR, Rodríguez-Pombo P, Clavero S, Navarrete R, Perez-Cerdá C, Ugarte M. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. Mol Genet Metab. 2003 Jan;78(1):59-67. PubMed citation
Pérez-Cerdá C, Clavero S, Pérez B, Rodríguez-Pombo P, Desviat LR, Ugarte M. Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts. Biochim Biophys Acta. 2003 May 20;1638(1):43-9. PubMed citation
Scriver, Charles R; The metabolic & molecular bases of inherited disease; 8th ed.; New York : McGraw-Hill, c2001. p2165-2177.

Reviewed: July 2007

Published: May 13, 2013