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| Description: TABLE 6.5 Human Diseases Associated with Copy Number Variants Disease Gene Alzheimer disease APP Autsomal dominant LMNBI adrenoleukodystroph y Charcot-Marie-Tooth PMPZZ Type IA Drug metabolism CYP2D6 HIV infection/AIDS CCL3L7 Lupus FCGRBB Parkinson’s disease SNCA Smith-Magenis syndrome RAH X—linked hypopituitarism SOXB Phenotype Buildup of amyloid protein precursor, death of certain brain cells Abnormalities of white matter in brain, breakdown of myelin sheath surrounding nerves Numbness in arms, legs, breakdown of myelin sheath surrounding nerves Increase or decrease in rate of drug metabolism, causing side effects and variation in effectiveness of drug Increased susceptibility to HIV infection and AIDS Increased susceptibility to kidney failure Death of certain brain cells, tremors, increasing rigidity of body Mental retardation Short stature, mild mental retardation; affects mostly males Picture Stats: Views: 184 Filesize: 323.66kB Height: 927 Width: 1500 Source: https://biology-forums.com/index.php?action=gallery;sa=view;id=44317 |