Recent Blog Posts

View Post: Sweat Test
8 Nov 2009 by asghar  
It may also be ordered in the case of patients who have tested negative with a standard CF gene mutation panel but who are clinically still suspected of having CF. The CF gene mutation panel generally tests for the 23 most common CF ...
View Blog: usmle preparation - http://ticpuny.blogspot.com/

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View Post: Genetic Testing: Does It Help or Hurt?
Lifescript.com
9 Nov 2009 ...
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View Post: Gene mutation might explain why we talk, chimps don't
11 Nov 2009 by Francis2004  
We know where the mutation is, precisely for one cause of cystic fibrosis. We know that the mutation is a deletion of three base pairs at the 508th position of a nucleotide sequence (technically the final base of 507 and the first two ...
View Blog: Canadian Content Forums - http://forums.canadiancontent.net/

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View Post: Characterization of a Disease-associated Mutation Affecting a ...
23 Oct 2009 by Faa, V., Incani, F., Meloni, A., Corda,...  
In this work, we describe a new splicing mutation detected in three unrelated Italian CF patients. By DNA analyses and mRNA studies, we identified the c.1002–1110_1113delTAAG mutation localized in intron 6b of the CFTR gene. ...
View Blog: Journal of Biological Chemistry current issue - http://www.jbc.org/

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View Post: Nathan's Fight: CF Gene Mutations and Nathan's Diagnosis
3 Sep 2009 by CFMama  
I am going to begin though during my pregnancy when my husband and I discovered we were carriers of the mutated Cystic Fibrosis gene. I remember very clearly the moment I found out, I was in the middle of teaching my first period ...
View Blog: Nathan's Fight - http://www.nathansfight.com/

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View Post: Mutation responsible for cystic fibrosis also involved in muscle ...
29 Jul 2009
However, a recent study by Dr. Basil Petrof reverses the equation: his results show that muscle atrophy and weakness may be a primary symptom caused by the effects of CFTR gene mutations on the muscle itself. Dr. Petrof's findings will ...
View Blog: EurekAlert! - Breaking News - http://www.eurekalert.org/

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View Post: News: Mutation responsible for cystic fibrosis also involved in ...
30 Jul 2009 by McGill University  
Cystic fibrosis is known to be caused by a specific mutation on the CFTR gene. Dr. Petrof's study demonstrates for the first time that the CFTR gene is also present in skeletal muscles, where it plays a role in calcium regulation. ...
View Blog: McGill University News - http://www.mcgill.ca/newsroom/news/

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View Post: Mutation responsible for cystic fibrosis also occupied in muscle ...
2 Aug 2009 by staff  
Supposedly, cystic fibrosis is known to be caused by a particular mutation on the CFTR gene. Dr. Petrof's research was the foremost one to have revealed that the CFTR gene also appears to be present in skeletal muscles. ...
View Blog: Health Jockey - http://www.healthjockey.com/2008/05/25/reiki-a-universal-healing-force/

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View Post: carrier status – do you have your tracking number?
27 Jul 2009 by Grant M. Wood  
the deltaf508 mutation is a specific dna change in the cftr gene that results in a non-functioning product (protein) of the gene. having one gene mutation in the cftr gene does not result in cf. so a question might be, “why do we even ...
View Blog: Fantastic Voyage: A journey through my... - http://exploringmygenes.blogspot.com/

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View Post: Heterogenous spectrum of CFTR gene mutations in Indian patients ...
10 Apr 2009 by Sharma, N., Acharya, N., Singh, SK, Singh,...  
BACKGROUND: Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congenital bilateral absence of vas deferens. Yet, the spectrum and frequency of CFTR mutations in Indian males with congenital ...
View Blog: Human Reproduction - Advance Access - http://humrep.oxfordjournals.org/

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