Identified VHL Mutations

Over 160 different germline VHL mutations have been identified in over 500 kindreds worldwide and are recorded in the Human Gene Mutation Database (http:// archive.uwcm.ac.uk/uwcm/mg/hgmd0.html). Mutations include missense and nonsense point mutations, micro-deletions, microinsertions, splice site, complex rearrangements (including inversions), whole gene, and gross deletion.[12] Intragenic germline point mutations are spread across the coding sequence and exhibit two clusters, one at the 3' end of exon 1 and the other at the 5' end of exon 3, but no mutations have been identified in the first 53 codons.[13] Mutation ''hot spots'' are apparent at hypermutable sequences such as CpG dinucleotides.[14] Founder mutations have also been reported,[15] as well as germline mosaicism which is a factor to take into consideration when analyzing for apparently sporadic presentations of VHL.[16] Some index cases may in fact present de novo, with no known family history.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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