. . . . "Majer, Filip" . "Ornithine carbamoyltransferase deficiency is the most common inherited defect of the urea cycle. We examined 28 male and 9 female patients from 29 families and identified 25 distinct mutations in OTC, 14 of which were novel. Three novel missense mutations (p.Ala102Pro, p.Pro158Ser, p.Lys210Glu) and a novel deletion of the Leu43 are not directly involved either in the enzyme active site or in the intersubunit interactions; however, the mutations include conserved residues involved in intramolecular interaction network essential for the function of the enzyme.Three novel large deletions - a 444 kb deletion affecting RPGR, OTC and TSPAN7, a 10 kb-deletion encompassing OTC exons 5 and 6 and a 24.5 kb-deletion encompassing OTC exons 9 and 10 - have probably been initiated by double strand breaks at recombination-promoting motifs with subsequent non-homologous end joining repair. Finally, we present a manifesting heterozygote carrying a hypomorphic mutation p.Arg129His in combination with unfavorably skewed X-inactivation in three peripheral tissues."@en . . . "RIV/00064165:_____/13:10193391" . "Clinical Genetics" . "\u0160tork\u00E1nov\u00E1, Gabriela" . . "10.1111/cge.12085" . . "I" . . "Vl\u00E1\u0161kov\u00E1, Hana" . "Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families" . . "8"^^ . "X-inactivation; urea cycle; ornithine carbamoyltransferase deficiency; mutation analysis; large deletion"@en . "94658" . . "000330092900006" . . "Ornithine carbamoyltransferase deficiency is the most common inherited defect of the urea cycle. We examined 28 male and 9 female patients from 29 families and identified 25 distinct mutations in OTC, 14 of which were novel. Three novel missense mutations (p.Ala102Pro, p.Pro158Ser, p.Lys210Glu) and a novel deletion of the Leu43 are not directly involved either in the enzyme active site or in the intersubunit interactions; however, the mutations include conserved residues involved in intramolecular interaction network essential for the function of the enzyme.Three novel large deletions - a 444 kb deletion affecting RPGR, OTC and TSPAN7, a 10 kb-deletion encompassing OTC exons 5 and 6 and a 24.5 kb-deletion encompassing OTC exons 9 and 10 - have probably been initiated by double strand breaks at recombination-promoting motifs with subsequent non-homologous end joining repair. Finally, we present a manifesting heterozygote carrying a hypomorphic mutation p.Arg129His in combination with unfavorably skewed X-inactivation in three peripheral tissues." . "Luk\u0161an, Ond\u0159ej" . "[C6D2A9ED975A]" . . . "Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families" . . "0009-9163" . "Jirsa, Milan" . "Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families"@en . "Pe\u0161kov\u00E1, Karol\u00EDna" . "Dvo\u0159\u00E1kov\u00E1, Lenka" . "Zeman, Ji\u0159\u00ED" . "http://dx.doi.org/10.1111/cge.12085" . "Str\u00E1neck\u00FD, Viktor" . "11"^^ . . "6" . . "Chuzhanova, N." . . "RIV/00064165:_____/13:10193391!RIV14-MZ0-00064165" . "84" . . "7"^^ . "Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families"@en . . . . . "H\u0159eb\u00ED\u010Dek, Martin" . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" .