id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_tfmgblse4vdqnge4iglsuiwhye	Nahid Dariush	Structure of the gene encoding the entire mature E1α subunit of human branched-chain α-keto acid dehydrogenase complex	1991	5	.pdf	application/pdf	2459	439	64	We report the isolation of a 22-kb human gcnomic clone (G7) that contains 8 exons encoding a partial mitochondrial presequence, the entire mature peptide and the complete 3' untranslated region of the E Icr mRNA of human branched-chain cr-keto acid dehydrogenase complex. gene structure, exon 9 contains the Tytig3 -+ Asn mutation previously identified in the EIK subunit of Mennonite and other maple syrup urine ELK gent structure (human); Maple syrup urine disease; Elr mutation; Exon skipping The regions of the human Ela cDNA sequence present in these cDNA clones were as follows: hEla-I 2 (bases 190 to 283 in the Ela, cDNA) and exons 3,4 and 5. The EcoRI site in exon 2 was identical to the one present in the human E~CX cDNA [4]. Moreover, during amplification of different regions of the mutant Elcv cDNA from a Mennonite MSUD patient (P-K.), a deletion that corresponds precisely to exon 6 was found (Fig. 3).	./cache/work_tfmgblse4vdqnge4iglsuiwhye.pdf	./txt/work_tfmgblse4vdqnge4iglsuiwhye.txt