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15 Cards in this Set
- Front
- Back
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Xeroderma pigmentosum
Defect of |
nucleotide excision repair defect can't repair thymidine dimers
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Xeroderma pigmentosum
Clinical presentation |
dry skin with melanoma nd other cancers
"children of the night" |
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Hereditary nonpolyposis colorectal cancer (HNPCC) or "Lynch Syndrome"
Defect of |
mismatch repair
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I Cell Disease
Defect of |
mannose-6-phosphate not added to lysosome proteins
lysosomal enaymes are secreated outside the cell instead of bein targeted to the lysosome |
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I Cell Disease
Clinical presentation |
coarse facial features
clouded corneas restricted joint movement high plasma levels of lysosomal enzymes fatal in childhood |
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Chediak Higashi Syndrome
Defect of |
microtubule polymerization defect results in decreased phagocytosis
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Kartagener's Syndrome
Defect of |
dynein arm defect --> immotile cilia
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Kartagener's Syndrome
Clinical presentation |
Male/Female infertility
bronchiectasis recurrent sinusitis situs inversus |
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Scurvy
Defect of |
hydroxylation of proline and lysine residues does not happen
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Osteogenesis Imperfecta
Defect of |
glycostlation of pro-alpha-chain lysine residues
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Osteogenesis Imperfecta
Inheritance |
Aut Dom
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Osteogenesis Imperfecta
Defect of what type of collagen |
Defect in Type I collagen
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Ehlers-Danlos
Defect of what type of collagen |
Defect in Type III collagen
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Marfan's is a defect in
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Fibrillin
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Emphysema is a defect in
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alpha-1-antitrypsin
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