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Journal Abstract Search

224 related items for PubMed ID: 9143919

  • 1. Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.
    Oppliger Leibundgut E, Liechti-Gallati S, Colombo JP, Wermuth B.
    Hum Mutat; 1997; 9(5):409-11. PubMed ID: 9143919
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  • 3. Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.
    Climent C, García-Pérez MA, Sanjurjo P, Ruiz-Sanz JI, Vilaseca MA, Pineda M, Campistol J, Rubio V.
    Hum Mutat; 1999 Oct; 14(4):352-3. PubMed ID: 10502831
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  • 8. [Familial primary ornithine carbamoyltransferase defect].
    Wettstein A, Colombo JP.
    Med Klin (Munich); 1986 Nov 11; 81(23):767-70. PubMed ID: 3807826
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  • 10. [DNA diagnosis of ornithine transcarbamylase deficiency by PCR method].
    Matsuura T, Matsuda I.
    Tanpakushitsu Kakusan Koso; 1990 Dec 11; 35(17):3113-9. PubMed ID: 2287729
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  • 14. Heterogeneity of patients with late onset ornithine transcarbamylase deficiency.
    Tuchman M, Holzknecht RA.
    Clin Invest Med; 1991 Aug 11; 14(4):320-4. PubMed ID: 1782729
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  • 16. Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy.
    Pridmore CL, Clarke JT, Blaser S.
    J Child Neurol; 1995 Sep 11; 10(5):369-74. PubMed ID: 7499756
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  • 18. [Genetic counseling in ornithine carbamoyltransferase deficiency].
    Pelet A, Toumas E, Rabier D, Kaplan J, Kamoun P, Frezal J, Saudubray JM, Munnich A.
    Ann Biol Clin (Paris); 1988 Sep 11; 46(7):455-9. PubMed ID: 2903704
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  • 19. [Ornithine transcarbamylase deficiency. Biochemical studies in the diagnosis of 4 cases and the identification of carriers].
    Briones Godino P, Vilaseca Busca MA, Alvarez Dominguez L, Rodes Monegal M, Campistol Plana J.
    An Esp Pediatr; 1991 May 11; 34(5):360-4. PubMed ID: 1883110
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  • 20. Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
    Matsuura T, Hoshide R, Kiwaki K, Komaki S, Koike E, Endo F, Oyanagi K, Suzuki Y, Kato I, Ishikawa K.
    Hum Mutat; 1994 May 11; 3(4):402-6. PubMed ID: 8081398
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