Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Among the contents of chromosome 9 the author mentions locuses for Friedreich's ataxia (FRDA), familial malignant melanoma (MLM), acute hepatic porphyria caused by deficiency of delta-aminolevulinate dehydrogenase (ALAD) and locus XPAC, the defective alleles of which condition disorders of nucleic acid reparative systems. By transcription and translation of the ABL oncogene attached to gene BCR and belonging to the 22nd chromosome a fusion protein with a high kinase activity is formed which is typical for the pathological clone of haematopoietic cells in chronic leukaemia.
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PMID:[The human genome--chromosome 9]. 775 88