Fanconi Syndrome mutation found ???
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  • I just saw on FB that Dr Johnson has found the mutation for Fanconi and a direct (mutation based) test is available through OFA :)…

    Can anyone tell if this is actaully true ??? If so what a wonderful day it is in the eradication of this devastating disease ;)...

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  • T

    BCOA members received an e-mail tonight telling us that Dr. Johnson HAS located the gene and that a direct test will be available from OFA!!

    YIPPEE!!!!!

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  • @Terry:

    BCOA members received an e-mail tonight telling us that Dr. Johnson HAS located the gene and that a direct test will be available from OFA!!

    YIPPEE!!!!!

    The direct test is already available. From what I understand if you order the test even though the OFA link still says "linkage" test, it will be done with the new test for the direct gene.

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  • That's good to hear. Has someone a direct link to the article about this?

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  • Fantastic news !

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