1mj4: Difference between revisions
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===Crystal Structure Analysis of the cytochrome b5 domain of human sulfite oxidase=== | ===Crystal Structure Analysis of the cytochrome b5 domain of human sulfite oxidase=== | ||
{{ABSTRACT_PUBMED_12832761}} | {{ABSTRACT_PUBMED_12832761}} | ||
==Disease== | |||
[[http://www.uniprot.org/uniprot/SUOX_HUMAN SUOX_HUMAN]] Defects in SUOX are the cause of isolated sulfite oxidase deficiency (ISOD) [MIM:[http://omim.org/entry/272300 272300]]; also known as sulfocysteinuria. ISOD is characterized by neurological abnormalities including multicystic leukoencephalopathy with brain atrophy. Patients often suffer from seizures. Often leads to death at an early age.<ref>PMID:9428520</ref><ref>PMID:9600976</ref><ref>PMID:10519592</ref><ref>PMID:12112661</ref><ref>PMID:12368985</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:012832761</ref><ref group="xtra">PMID:012207032</ref><references group="xtra"/> | <ref group="xtra">PMID:012832761</ref><ref group="xtra">PMID:012207032</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Sulfite oxidase]] | [[Category: Sulfite oxidase]] | ||
