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Author Question: An inherited human disorder, familial dysautonomia, results from a nucleotide mutation in the ... (Read 63 times)

ssal

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Question 1

A researcher has produced groups of contigs that are linked via paired-end sequences, although these include some sequence gaps. What are these groups called?
◦ scaffolds
◦ *

Question 2

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?
◦ alternative splicing
◦ *


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Marked as best answer by ssal on Jan 12, 2022

akemokai

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ssal

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Reply 2 on: Jan 12, 2022
Thanks for the timely response, appreciate it


peter

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Reply 3 on: Yesterday
Great answer, keep it coming :)

 

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