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CLCN6 identified as disease gene for a severe form of lysosomal neurodegenerative disease – Science Daily
A mutation in the CLCN6 gene is associated with a novel, particularly severe neurodegenerative disorder. Scientists have now analyzed the effect of a point mutation…
A mutation in the CLCN6 gene is associated with a novel, particularly severe neurodegenerative disorder. Scientists from the Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP) and the Max Delbrück Center für Molekulare Medizin (MDC), together with an international team of researchers, have now analyzed the effect of a point mutation that was found in three unrelated affected children. ClC-6 is one of nine members of the CLCN gene family of chloride channels and chloride/proton exchangers…
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