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Cystic Firbrois Presentation (1) what is CF (2) genetic transmition of the…
Cystic Firbrois Presentation
1) what is CF
define
symptoms
current treatments
2) genetic transmition of the disease
3) how diesases was identified
the arrpoch
lab based techniques
use reviews, these with give citations of the origingal research
4) Cellular biology and physiology
fucntion of encoded protein
what cellular pathways are mis-redulaged
Is there a particular organ type/ physiological system thats relevant?
5) Future
Current treatments
Furture managment
This is whole marking critrea
Medelean ect
Use a diagram here
mechansiusm of inheritcance
genotype-phenotype correlation
presence/absence/severity of a specific phenotype
do any specific mutations correlate with a particalur clinical outcome
immdedate effect of geentic mution on RNA/ protein product, showing why genotype is so deleterious
do not mention fucntion of protien
Punnet square
clinical description
how is it diagnosed