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Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

✍ Scribed by Chadefaux, B. ;Bonnefont, J. P. ;Rabier, D. ;Shih, VE. ;Saudubray, J. M. ;Kamoun, P. ;Neri, Giovanni ;Reynold, James F.


Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
114 KB
Volume
32
Category
Article
ISSN
0148-7299

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Eight unrelated Italian patients with the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome were analyzed for mutations in the ORNT1 gene. Seven novel mutations were identified (Q89X, G27R, G190D, R275Q, c.861insG, c.164insA, and IVS5+1G→ → A). Other previously described varian

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