Ornithine transcarbamylase deficiency: Pathogenesis of the cerebral disorder and new prospects for therapy
β Scribed by Adrianna Michalak; Roger F. Butterworth
- Book ID
- 110613893
- Publisher
- Springer
- Year
- 1997
- Tongue
- English
- Weight
- 756 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0885-7490
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The "private" nature of most mutations causing ornithine transcarbamylase (OTC) deficiency makes mutation identification in the patients difficult. Further, the PCR-amplification technology generally used for the genetic diagnosis of the deficiency misses large deletions in carrier females. Intragen
A deletion of at least 11.5 cM in the paternal X chromosome mapping between microsatellites DXS989 and DXS1003 and encompassing the genes for ornithine transcarbamylase (OTC), retinitis pigmentosa GTPase regulator (RPGR) and dystrophin, was associated with the loss of band Xp21 in a female patient w