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(1997). https://pubmed.ncbi.nlm.nih.gov/9153281/ DOI: 10.1172/jci119421","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Duodenal mucosa and genetics","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"bb233a5a-d655-51b3-a24f-718d9526a788","evidence_kind":"source_excerpt","locator":"Lines 1223-1234","start_line":1223,"end_line":1234,"excerpt":"### mo-xdh-type-i\nThree type I xanthinuria subjects had confirmed XDH gene defects; one tested nonsense variant lacked duodenal XDH protein despite preserved mRNA.\nCondition category: machinery_impairment\nnutrient_topic: Molybdenum research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: An enzyme-specific genetic defect should not be labeled a shortage of the mineral.\norganism: Homo sapiens\ntissue_or_cell_type: Duodenal mucosa and genetics\nexperimental_model: Genetic analysis of four classical-xanthinuria subjects\nlimitations: Specific XDH deficiency, distinct from loss of all Moco synthesis or the combined XDH/AOX1 deficiency of MOCOS defects.\nexposure: XDH nonsense and frameshift variants\nevidence_span: {\"source_cache\": \"artifacts/molybdenum-research/9153281.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"736b96f30570738a8aa1f55f33d1839eef8ce5911ce2c51b221db2e325517a0e\", \"start_char\": 0, \"end_char\": 1243, \"text_sha256\": \"736b96f30570738a8aa1f55f33d1839eef8ce5911ce2c51b221db2e325517a0e\"}\n[mo-p9153281] Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. 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