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Volumn 19, Issue 11, 1999, Pages 1052-1054

Prenatal diagnosis of ornithine transcarbamylase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; CITRULLINE; GLUTAMINE; ORNITHINE CARBAMOYLTRANSFERASE;

EID: 0032737797     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199911)19:11<1052::AID-PD693>3.0.CO;2-2     Document Type: Note
Times cited : (2)

References (13)
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  • 3
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    • Francke, U.1
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    • Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency
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  • 7
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    • Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency
    • Maddalena A, Spence JE, O'Brien WE, Nussbaum RL. 1988. Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. J Clin Invest 82: 1353-1358.
    • (1988) J Clin Invest , vol.82 , pp. 1353-1358
    • Maddalena, A.1    Spence, J.E.2    O'Brien, W.E.3    Nussbaum, R.L.4
  • 8
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    • The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency
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    • Rozen R, Fox J, Fenton WA, Horwich AL, Rosenberg LE. 1985. Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus. Nature 313: 815-817.
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  • 10
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.