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Journal Abstract Search
192 related items for PubMed ID: 1671317
1. Improved molecular diagnostics for ornithine transcarbamylase deficiency. Grompe M, Caskey CT, Fenwick RG. Am J Hum Genet; 1991 Feb; 48(2):212-22. PubMed ID: 1671317 [Abstract] [Full Text] [Related]
3. DNA analysis for ornithine transcarbamylase deficiency. Rozen R, Fox JE, Hack AM, Fenton WA, Horwich AL, Rosenberg LE. J Inherit Metab Dis; 1986 Feb; 9 Suppl 1():49-57. PubMed ID: 2878115 [Abstract] [Full Text] [Related]
4. Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene. Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A. Hum Genet; 1991 Dec; 88(2):153-6. PubMed ID: 1721894 [Abstract] [Full Text] [Related]
5. Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families. Yoo HW, Kim GH, Lee DH. J Inherit Metab Dis; 1996 Dec; 19(1):31-42. PubMed ID: 8830175 [Abstract] [Full Text] [Related]
10. Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene. Hata A, Setoyama C, Shimada K, Takeda E, Kuroda Y, Akaboshi I, Matsuda I. Am J Hum Genet; 1989 Jul; 45(1):123-7. PubMed ID: 2741942 [Abstract] [Full Text] [Related]
17. Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. Bisanzi S, Morrone A, Donati MA, Pasquini E, Spada M, Strisciuglio P, Parenti G, Parini R, Papadia F, Zammarchi E. Mol Genet Metab; 2002 Jun; 76(2):137-44. PubMed ID: 12083811 [Abstract] [Full Text] [Related]