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Huntingtons Disease > Point Mutation
The following information is about Point Mutation.
Point Mutation Defined
A mutation in which a single base pair in the DNA strand is replaced by a different base pair.
This definition is in context to Huntingtons Disease. See more contextual defintions for Point Mutation.
5 things you didn't know about fibrodysplasia ossificans progressiva
Published August 29, 2008, 2:40 pm, Miami Herald
1 What is it? Also known as FOP, it's a rare, genetic disease in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone. It generally starts with the neck and shoulders and proceeds down the body into the limbs.
New NICE Guidelines Are Set To Reduce Premature Deaths In People Who Have Inherited High Cholesterol
Published August 28, 2008, 5:15 am, Medical News Today
The National Institute for Health and Clinical Excellence (NICE) and the National Collaborating Centre for Primary Care have today (27 August 2008) published a guideline on the care and treatment of adults and children/young people with familial hypercholesterolaemia (FH), a type of high cholesterol that is caused by an inherited genetic mutation.
Scientists discover gene related to eye disease
Published August 28, 2008, 12:19 am, Lexington Herald-Leader
A team of scientists, including a researcher from the University of Kentucky, has identified a gene that is directly related to an incurable eye disease that affects more than 8 million Americans. The discovery might be the first step toward a treatment for the disease, which causes permanent vision loss. The researchers, who will report their results Thursday in the online edition of ...
DNA testing: Doctors search for 100,000 at risk of early heart attack
Published August 26, 2008, 4:24 pm, Guardian Unlimited
National Institute for Health and Clinical Excellence recommends major DNA testing programme
Polycythemia vera "“ how bad is it?
Published August 26, 2008, 2:08 pm, Times News
33 cases confirmed, actual figure could be high as 100
Sisters take to the hills for a breast cancer cure
Published August 25, 2008, 6:12 pm, The Herald
It was their genetic path which led three sisters from Glasgow to their darkest days. Not only did they see their mother die from breast cancer, but each of them, too, has been affected by the disease.
United way picks daisy
Published August 22, 2008, 10:37 pm, Pocono Record
"She was missing skin from the knees down," said Daisy's mother, Dana Sherman of Jonas. "She was diagnosed at birth with epidermolysis bullosa, or EB."
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Tue Jun 10
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