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+1Gβ β A). Other previously described varian
Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome
β 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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