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11 Cards in this Set
- Front
- Back
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neurofibromatosis 1 gene defect
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neurofibromin on chromosome 17, icreases GTPase
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neurofibromatosis 2 gene defect
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schawonnomin or merlin on chrom 22
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tuberous sclerosis gene defect
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TSC-1 on chrom 9, TSC-2 on chrom 16
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Marfan's Syndrome gene defect
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fibrillin on chrom 15
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Dystrophic Epidermolysis Bullosa Gene defect
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Col7A1 on crom 3
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Peutz-Jeghers Syndrome gene defect
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STK11/LKB1-tumor suppresor
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gardner syndrome gene defect
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APC gene-tumor suppresor
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xeroderma pigmentosum gene defect
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XPA,B,C,D,F,G-defectiv DNA excision repair
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cowden's syndrome gene defect
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PTEN (tumor suppressor)
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Alkaptonuria gene defect
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homogentisic acid oxidase deficiency--accumulation of homogentisic acid in connective tissue
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Fabry's Disease gene defect
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alpha-galactosidase A--accumulation of neutral glycosphingolipids (x-linked recessive)
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