Article
Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
Gene - 10 Jan 2013
Gaignard Pauline, Fagart Jérôme, Niemir Natalia, Puech Jean-Philippe, Azouguene Emilie, Dussau Jeanne, Caillaud Catherine
Abstract excerpt
Sandhoff disease (SD) is an autosomal recessive lysosomal storage disease caused by mutations in the HEXB gene encoding the beta subunit of hexosaminidases A and B, two enzymes involved in GM2 ganglioside degradation. Eleven French Sandhoff patients with infantile or juvenile forms of the disease were completely characterized using sequencing of the HEXB gene. A specific procedure was developed to facilitate the...
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