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Latest Mutation Stories

2012-07-30 13:45:09

A five-country international team, led by Casey Eye Institute Molecular Diagnostic laboratory, BGI and Zhejiang University School of Medicine First Affiliated Hospital identified the NMNAT1 mutations as a cause of Leber congenital amaurosis (LCA), one of the most common causes of inherited blindness in children.

2012-07-30 12:53:15

Researchers from the Massachusetts Eye and Ear Infirmary, The Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division and their collaborators have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but devastating form of early-onset blindness.

2012-07-16 10:19:02

A new genetic mutation that causes familial amyotrophic lateral sclerosis (ALS), a fatal neurological disorder also known as Lou Gehrig's Disease, has been identified by a team of scientists led by researchers at the University of Massachusetts Medical School (UMMS).

Mutations In Autism Gene Increases Risk In Boys
2012-07-12 17:40:48

Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).

2012-07-11 13:49:14

Listed below are the selected highlights for the July 2012 issue of the Genetics Society of America's journal, Genetics.

2012-07-02 22:01:44

Cancers are age-related, much more frequent in the old than in the young.

2012-06-29 06:15:57

Using a human induced pluripotent stem cell (iPSC) from a patient suffering from Huntington’s disease, researchers at the Buck Institute for Research on Aging have corrected the genetic mutation that is responsible for the disease.

2012-06-28 20:25:11

Frequency-dependent selection fosters the diversity of populations but does not always increase the average fitness of the population.

Massive Brain Asymmetry Caused By Gene Mutations
2012-06-25 09:41:28

Discovery could help lead to prevention of radical surgery in rare childhood disease

2012-06-21 21:08:20

UCLA researchers have combined two tools – gene expression and the use of peripheral blood -- to expand scientists' arsenal of methods for pinpointing genes that play a role in autism.


Word of the Day
onomatope
  • An imitative word; an onomatopoetic word.
The word 'onomatope' is a back-formation from 'onomatopoeia'.
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