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16 Cards in this Set
- Front
- Back
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Cystic Fibrosis
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Autosomal Recessive
CFTR pulmonary degeneration |
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Sickle Cell Anemia
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AR Point mutation
Beta-globin hemolytic anemia |
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Tay-Sachs
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AR
hexosaminidase alpha subunit neurodegeneration |
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Phenylketonuria
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AR pleiotropic
phenylalanine hydroxylase mental retardation, seizures |
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Hurler Syndrome
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AR Pleiotropic
mental retardation, coarse faces |
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xeroderma pigmentosum
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AR genetic heterogeneity
UV specific endonuclease malignant dermal cell cancer |
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thalassemias
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AD genetic heterogeneity
anemia |
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Marfan syndrome
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AD pleiotropic
fibrillin-1 tall, arachodactyly |
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familial hypercholestermia
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AD
ldl receptor 2x plasma cholesterol levels |
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myotonic muscular dystophy
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AD anticipation
myotonin protein kinase muscular degeneration |
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huntingdon disease
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AD anticipation
huntington gene jerky chorea movement, dementia |
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achondroplasia
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AD pleiotopic
fibroblast growth receptor 3 short arms and legs, big head |
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hutchinson gilford progeria
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AD
lamin A premature aging |
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retinoblastoma
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AD tumor suppresor
RB1 retinal tumors before age 5 |
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neurofibromatosis type I
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AD pleiotropic tumor suppressor
neurofibromin NF1 (downregulates Ras) neuroblastomas, cafe au lait spots |
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neurofibromatosis type II
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AD pleiotropic tumor suppressor
schwannomin vestibular schwannomas (CN VIII) |
