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4 matches found for "CEP290"

Page | 1 |

Cats' Eye Diseases Genetically Linked to Diseases in Humans

About one in 3,500 people are affected with retinitis pigmentosa (RP), a disease of the retina's visual cells that eventually leads to blindness. Now, a University of Missouri researcher has iden...

Life Sciences |

Scientists Identify Critical Protein Complex in Formation of Cell Cilia

The new report, published this week by Developmental Cell and selected as the featured publication of the open-access online edition, describes how three proteins work together to regulate the formati...

Life Sciences |

Breakthrough by MUHC researcher has major implications for diagnosis, treatment of childhood blindness

"This discovery represents a significant advance in the fight against this debilitating condition." says Dr. Koenekoop, Director of the McGill Ocular Genetics Centre at the MUHC and Associat...

Health and Medicine |

UCSD researchers link novel mutated gene to meal retardation and imbalance

JSRD is a group of neurodevelopmental syndromes marked by absence of the middle part of the cerebellum called the vermis, along with features including poor balance, jerky eye movements, mental retard...

Life Sciences |

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