id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_av4lzmkbbzda3hgvpstyfssllm	Matthias R. Baumgartner	The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency	2001	11	.pdf	application/pdf	7257	735	64	Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal Here, we report cloning of MCCA and MCCB cDNAs and the organization of their structural genes. complementation groups, CG1 and 2, resulting from mutations in MCCB and MCCA, respectively. We identify five MCCA and nine MCCB mutant alleles and show that missense mutations in Proteins in mitochondrial enriched fractions from cultured fibroblasts were separated by SDS-PAGE, and the biotin-containing subunits of MCC, PCC, and PC were detected with an avidin alkaline mutations identified in MCC-deficient patients are indicated above The protein comigrating with the 66-kDa marker (Figure 4) contained tryptic fragments with sequences corresponding to the conceptual translation of the putative human MCCB cDNA. MCCB cDNAs. Organization of human MCCA residues (Figure 3a), and the corresponding alleles confer no detectable MCC activity when expressed in the	./cache/work_av4lzmkbbzda3hgvpstyfssllm.pdf	./txt/work_av4lzmkbbzda3hgvpstyfssllm.txt