Sequence-based mutation analysis Gaucher Disease

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Revision as of 14:34, 14 June 2012 by Angermue (talk | contribs) (Mutations)

The aim of this task was to carry out a thorough analysis of ten mutations and to classify them as disease-causing and non-disease causing. The mutations have been selected by another group from our [Researching SNPs Gaucher Disease|set of collected mutations] such that their impact had been unknown for us prior to this task. Technical details are reported in our protocol.

Mutations

<figtable id="tab:mutations">

Nr Position From To
1 99 H R
2 211 V I
3 150 E K
4 236 L P
5 248 W R
6 534 R C
7 351 W C
8 423 A D
9 482 D N
10 83 R S

</figtable>