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A 12-Year-Old Boy Is Evaluated in the Clinic Due to Excessive

question 5

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A 12-year-old boy is evaluated in the clinic due to excessive bleeding following a tooth extraction.  The patient also develops large bruises after only minor injury but has had no major bleeding episodes in the past.  His maternal uncle died from an intracranial hemorrhage.  Laboratory testing reveals decreased coagulation factor VIII activity levels.  A referral is made to a clinical geneticist, who suspects that the patient has a deletion mutation in the enhancer sequence of the factor VIII gene.  This mutation has resulted in decreased transcription of factor VIII by RNA polymerase II.  Which of the following is the most accurate statement regarding the abnormal genetic sequence in this patient?


Definitions:

Formal

Pertaining to or following established, traditional rules or principles, especially in a social or cultural setting.

Decoder

A device or program that translates encoded data into its original format; in communication, someone who interprets the message.

Technologies

The use of scientific understanding to achieve practical goals, particularly within industrial sectors.

Manager

is a person responsible for controlling or administering all or part of a company or similar organization, often tasked with making decisions and overseeing the work of others.

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