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Article

Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

Annals of clinical and laboratory science - 1 Jan 2011

Cho Sung Yoon, Chang Young Pyo, Park Ji Yun, Park Hyung-Doo, Sohn Young Bae, Park Sung Won, Kim Se Hwa, Ji Suntae, Kim Su Jin, Choi Eun Wha, Kim Chi Hwa, Ko Ah-ra, Paik Kyung-Hoon, Jin Dong-Kyu

Abstract excerpt

Peroxisome biogenesis disorders (PBD) represent a spectrum of genetic disorders characterized by impaired peroxisome assembly. Zellweger syndrome (ZS) is the most severe form of PBD and is characterized by craniofacial abnormalities, severe hypotonia, neonatal seizures, ocular abnormalities, psychomotor retardation, hepatomegaly and increased levels of very long chain fatty acids (VLCFA). The most common mutation...

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Identifiers

PMID: 21844578

Genes

PEX1

Variants

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