cmtproject.blogspot.com

Stacy Project

Thursday, May 24, 2012. After learning that Stacy likely has a compound heterozygote mutation causing CMT4, I found out that SH3TC2 is a known CMT4 causal gene causing CMT4C. I decided to investigate what we know about SH3TC2 and CMT4 in general. My search led me to find out about the work being done by the CMTA (CMT Association. In 2010, the CMTA. Posted by Erik Corona. Final Set of Mutations. Posted by Erik Corona. Friday, May 18, 2012. Likely Cause of CMT4 Identified: SH3TC2. Who has an awesome blog.

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Thursday, May 24, 2012. After learning that Stacy likely has a compound heterozygote mutation causing CMT4, I found out that SH3TC2 is a known CMT4 causal gene causing CMT4C. I decided to investigate what we know about SH3TC2 and CMT4 in general. My search led me to find out about the work being done by the CMTA (CMT Association. In 2010, the CMTA. Posted by Erik Corona. Final Set of Mutations. Posted by Erik Corona. Friday, May 18, 2012. Likely Cause of CMT4 Identified: SH3TC2. Who has an awesome blog.

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Stacy Project | cmtproject.blogspot.com Reviews

https://cmtproject.blogspot.com

Thursday, May 24, 2012. After learning that Stacy likely has a compound heterozygote mutation causing CMT4, I found out that SH3TC2 is a known CMT4 causal gene causing CMT4C. I decided to investigate what we know about SH3TC2 and CMT4 in general. My search led me to find out about the work being done by the CMTA (CMT Association. In 2010, the CMTA. Posted by Erik Corona. Final Set of Mutations. Posted by Erik Corona. Friday, May 18, 2012. Likely Cause of CMT4 Identified: SH3TC2. Who has an awesome blog.

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cmtproject.blogspot.com

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Stacy Project: Is GDAP1 Causing CMT4?

http://cmtproject.blogspot.com/2012/05/is-gdap1-causing-cmt4.html

Sunday, May 13, 2012. Is GDAP1 Causing CMT4? We are moving on to the 3rd gene to test for CMT4 causing mutations. In the last two posts, we investigated genes FGD4. We found no known CMT4 causing mutations in Stacy's exome. We still have 4 out of 7 genes to check. As we move down the list, the chance that Stacy either was misdiagnosed or has a novel mutation causing CMT4 increases. However, we won't know for sure until we exhaust all known mutations. Here, we check GDAP1. And type in GDAP1. Since the exo...

2

Stacy Project: About this blog

http://cmtproject.blogspot.com/2012/05/about-this-blog.html

Wednesday, May 9, 2012. Stacy has decided to make all the genes relevant to CMT4 public. I will be posting bam files for the regions overlapping the genes causing CMT4 as we examine every one of these genes throughout the blog. This is done to allow others to join in and analyze Stacy's exome. Phase I Finding the Genetic Cause of the Disease:. Find all variants known to cause CMT4 and check Stacy's exome for their presence. Find all variants known to cause any. Type of CMT (CMT1, CMT2, etc.). Final Set o...

3

Stacy Project: May 2012

http://cmtproject.blogspot.com/2012_05_01_archive.html

Thursday, May 24, 2012. After learning that Stacy likely has a compound heterozygote mutation causing CMT4, I found out that SH3TC2 is a known CMT4 causal gene causing CMT4C. I decided to investigate what we know about SH3TC2 and CMT4 in general. My search led me to find out about the work being done by the CMTA (CMT Association. In 2010, the CMTA. Posted by Erik Corona. Final Set of Mutations. Posted by Erik Corona. Friday, May 18, 2012. Likely Cause of CMT4 Identified: SH3TC2. Who has an awesome blog.

4

Stacy Project: Database of CMT causing mutations

http://cmtproject.blogspot.com/2012/05/database-of-cmt-causing-mutations.html

Thursday, May 10, 2012. Database of CMT causing mutations. Stacy had her exome sequenced with 23andMe. I was fortunate enough to have been included in the 80x exome pilot study and they were nice enough to allow me to switch places with Stacy. We got her exome sent to us over this past weekend. The first order of business is finding a list of CMT4 mutations to check. Here. If you have a .bam file and you would like to create your own index, type in the following samtools command:. Known Causes of CMT4.

5

Stacy Project: Final Set of Mutations

http://cmtproject.blogspot.com/2012/05/final-set-of-mutations.html

Thursday, May 24, 2012. Final Set of Mutations. Mutations In CMT Causal Genes. Het - silent mutation causing misfolded mRNA. Hom - silent mutation. 1 Het Silent Mutation. Het - Ile315Iel (Silent Mutation). DiseaseMutations Match Reference Genome. Arg899X NO COVERAGE - Causes CMT4J. Ile902Thr NO COVERAGE - Causes Amyotrophic Lateral Sclerosis. Multiple in non-coding regions and one single base deletion past the stop codon. Ser169Ser SILENT MUTATION (TCT- TCG). Posted by Erik Corona. Is GDAP1 Causing CMT4?

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Thursday, May 24, 2012. After learning that Stacy likely has a compound heterozygote mutation causing CMT4, I found out that SH3TC2 is a known CMT4 causal gene causing CMT4C. I decided to investigate what we know about SH3TC2 and CMT4 in general. My search led me to find out about the work being done by the CMTA (CMT Association. In 2010, the CMTA. Posted by Erik Corona. Final Set of Mutations. Posted by Erik Corona. Friday, May 18, 2012. Likely Cause of CMT4 Identified: SH3TC2. Who has an awesome blog.

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