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Rebecca Ruthberg
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Decks in this class (17)
Molecular Diagnostics
All dna technologies rely on what,
If you heat dna molecule what wil...,
What happens to a denatured dna m...
74
cards
Molecular Diagnostics 2
What does aso stand for,
What is the point of aso hybridiz...,
When doing a aso hybridization yo...
95
cards
Molecular Diagnositcs 3
What is an alternative approach t...,
What is mlpa,
What is the principle in allele s...
89
cards
Molecular Diagnostics 4
Can you sequence genomic dna dire...,
What do you do first to sequece g...,
What do you use at template for s...
38
cards
Mutation & Disease
Define mutation,
Are mutations pathologic,
What is pathologic mutation
88
cards
Recessive Diseases
What is mode of inheritance for dmd,
What kinase is elevated in dmd,
What is most common cause of deat...
217
cards
Dominant Diseases
In almost all ad disoders how wil...,
Are most pts with dominant inheri...,
Homozygotes are almost always aff...
31
cards
Gain of Function Mutation
What is a gain of function mutation,
What type of mutation causes gain...,
What is main disease when fgfr3 i...
39
cards
Dominant Negative Mutations
What is a dominant negative mutation,
What kinds of proteins are usuall...,
What does oi stand for
42
cards
Nonsense-Mediated RNA Decay
Premature termination codons resu...,
Premature stop codon results in what,
Evolutionarily why might prematur...
87
cards
Dynamic Mutation Diorders
What are static mutations,
What are dynamic mutations,
All diseases with dynamic mutatio...
177
cards
Recombination, Linkage & Gene mapping
What are the two approaches to id...,
How does functional cloning ident...,
What do you have to know in order...
75
cards
Population Genetics
What is population geneitcs,
What are different factors that c...,
Hypotonia cherry red spot at fove...
75
cards
Sex Chromosomes
What does par stand for,
The x and y chromosomes do what d...,
What is the pseudoautosomal region
156
cards
Epigenetics & Genomic Imprinting
What is epigenetics,
How does epigenetics control gene...,
What is euchromatin
100
cards
Multifactoral Disorders
Complex traits or multifactorial ...,
Describe family clustering,
Are multifactoral disorders genetic
72
cards
Genetic Counseling & Screening
What is genetic counseling,
Who is the consultand,
Consulting is always _____ when c...
65
cards
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MCB1 Block 4
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