Article
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Molecular genetics and metabolism - 1 Nov 2004
Steinberg Steven, Chen Li, Wei Liumei, Moser Ann, Moser Hugo, Cutting Garry, Braverman Nancy
Abstract excerpt
Peroxisome biogenesis disorders in the Zellweger syndrome spectrum (PBD-ZSS) are caused by defects in at least 12 PEX genes required for normal organelle assembly. Clinical and biochemical features continue to be used reliably to assign patients to this general disease category. Identification of the precise genetic defect is important, however, to permit carrier testing and early prenatal diagnosis. Molecular...
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