An Inherited Human Disorder, Familial Dysautonomia, Results from a Nucleotide

question 35

Short Answer

An inherited human disorder, familial dysautonomia, results from a nucleotide mutation in the gene IKAP that is expressed in the nervous system. The decreased IKAP protein leads to abnormal development, and the resulting disease is usually fatal by age 30. The nucleotide change alters splicing. If this change affects only the nervous system and not the immune system, in which the gene is also expressed, what feature must be found in this gene?

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Definitions:

Physical Distribution

Actual movement of products from producer to consumers or business users.

Direct Distribution Channel

Marketing channel that moves goods directly from producer to ultimate user.

Indirect Distribution Channel

A chain of intermediaries through which a product passes before reaching the consumer, involving one or more third parties.

Customer Service

The support and guidance offered by a company to its customers or users of its products or services.