Ala305glu
From Bioinformatikpedia
- 914C-A change in exon 6 of the ASPA gene
- found exclusively in non-Jewish patients => 60% of deleterious mutations in disease patients <ref>Kaul, R., Gao, G. P., Aloya, M., Balamurugan, K., Petrosky, A., Michals, K., Matalon, R. Canavan disease: mutations among Jewish and non-Jewish patients. Am. J. Hum. Genet. 55: 34-41, 1994 < /ref>
further information:
http://decrypthon.igbmc.fr/msv3d/cgi-bin/mutant?protein=P45381&mutation=p.Ala305Glu
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