HSAN 1: Identification of new mutations, more accurate diagnosis and improved genetic counseling

Friday, October 8, 2010 - 10:30 in Biology & Nature

Belgian researchers at the University of Antwerp have identified several mutations that play an important role in the development of Hereditary Sensory and Autonomous Neuropathy Type 1 (HSAN 1). HSAN 1 is a rare genetic disorder of the peripheral nervous system. Identification of the mutations will lead to a more accurate diagnosis of the disease in patients as well as improved genetic counseling and prenatal diagnostic tests for couples who are carriers and planning a pregnancy.

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