I ran across this article by Dr. Gahl that is sort of an update to the journal article I have in my own files that's an overview of HPS. I'm only including the link because it is so long, but it gives a great overview, as of 2007, of all the HPS gene mutations, complications etc.
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&partid=1287
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&partid=1287
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