Term
| What is/are major difference(s) between obstructive and restrictive lung diseases |
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Definition
in obstructive diseases, total lung capacity is increased and in restrictive lung disease, total lung capacity is decreased. As well, in obstructive lung diseases, RVTLC is increased, whereas in restrictive lung diseases, RV/TLC is normal |
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Term
| Carriers of a balanced translocation between an x chromosome and an autosome are at risk of what? |
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Definition
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Term
| what is a derivative chromosome |
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Definition
qThe abnormal x chromosome with additional genes from an autosome is called a derivative (der) |
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Term
| what is skewed X inactivation |
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Definition
females are mosaics when it comes to expressing the x chromosome, so a consequence of this is that sometimes they will partly present with a disease. |
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Term
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Definition
Dystrophin binds the Actin filament network within the cytoplasm to the ECM via binding to sacrolemma proteins. |
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Term
| what is Becker's muscular dystrophy? |
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Definition
- nBecker Muscular Dystrophy (BMD); is an allelic mutation to DMD.
- nCharacterized by frame-shift mutations leading to a shorter dystrophin protein, showing milder symptoms
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Term
| what percentage of DMD is due to spontaneous mutations |
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Definition
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