Re: Getting Answers when the symptoms don't match the genetics
Hi, lou
I checked the LOVD (Leiden Open Variation Database).
The SCN4a (xxDNA change)p.Val781Ile defect has been reported once
as producing hypokalemic periodic paralysis.
The database lists a number of DNA changes that produce the same amino acid change.
Thanks, Joe
That string deliberately does not produce a link but if you copy it into your address bar with or without "http://" as appropriate it should take you to
the right place.