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Map-dot-fingerprint dystrophy

Map-dot-fingerprint dystrophy

fingerprint dystrophy accompanied by map-like patterns and microcystic epithelial inclusions.


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Molecular medicine: antisense

The human side of clinical trials: these are articles about efforts to advocate for a new medicine. Here are a few articles on Duchenne muscular dystrophy and eteplirsen, a Morpholino antisense drug currently in clinical trials. http://www.huffingtonpost.com/tracy-seckler/eteplirsen-duchenne_b_4904850.html ...

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by jonmoulton
Thu Mar 06, 2014 4:19 pm
 
Forum: Molecular Biology
Topic: Molecular medicine: antisense
Replies: 0
Views: 680

Genetic testing: reliability, accuracy, experience?

... the very same allele may also have some beneficial effect. Certain diseases are very straightforward, though. For example, the Duchenne muscular dystrophy requires just a single mutation in one of the alleles of a gene for dystrophin in the X chromosome, and if you inherit this mutation and happen ...

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by biohazard
Mon Apr 15, 2013 8:55 am
 
Forum: Genetics
Topic: Genetic testing: reliability, accuracy, experience?
Replies: 3
Views: 4110

Re: Muscular dystrophy inheritance question

Right - this is autosomal, therefore it is not Duchenne muscular dystrophy (DMD) and is not a mutation of the dystrophin gene. Thanks, I had missed that. The upper sequences look identical, while the lower sequences show two different sequences for the female ...

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by jonmoulton
Thu Jan 10, 2013 3:59 pm
 
Forum: Molecular Biology
Topic: Muscular dystrophy inheritance question
Replies: 7
Views: 5689

Re: Muscular dystrophy inheritance question

... has 1 mutant allele (upper sequence) and 1 wildtype (lower sequence) and is therefore unaffected as it is recessive. I am not sure if muscular dystrophy actually shows this type of inheritance or if my lecturer made that up, but based on the fact that we were told it's autosomal recessive I'm ...

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by firefly
Wed Jan 09, 2013 9:16 pm
 
Forum: Molecular Biology
Topic: Muscular dystrophy inheritance question
Replies: 7
Views: 5689

Re: Muscular dystrophy inheritance question

The lower sequence shows one trace for the male but for the female there are two traces at one nucleotide position (labelled N). That looks like the allelic difference; since the female has two copies of the dystrophin gene that differ slightly, this can give rise to the two traces in the sequence (...

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by jonmoulton
Wed Jan 09, 2013 5:06 pm
 
Forum: Molecular Biology
Topic: Muscular dystrophy inheritance question
Replies: 7
Views: 5689
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