What are the major symptoms of this disorder

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Problem 1. Which gene is mutated in individuals with this genetic disorder?

Problem 2. What are the major symptoms of this disorder?

Problem 3. Is this a dominant or recessive autosomal disease or sex-linked disease? Which chromosome carries this gene? (certain disease can have multiple genes causing it, but you only need to pick one specific known mutated gene in that case)

Problem 4. What is the molecular basis of the mutation? What do we know about how the mutation in DNA affects the cell/protein expression?

Problem 5. Describe two other (interesting to you) features of this disorder that you learned from this database and state where you found this information.

Reference no: EM133501598

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