80. A novel mutation in the HEX B gene causing infantile Sandhoff disease: A high throughput semi-automated method for genetic screening of newborns

Authors :: Robin Casey
Nick A. Antonishyn
Roy A. Gravel
Denis C. Lehotay
Braden Fitterer
Source :: Molecular Genetics and Metabolism. 99:S24
Publication Year :: 2010
Publisher :: Elsevier BV, 2010.

Subjects :: Genetics
Infantile Sandhoff Disease
Endocrinology
Endocrinology, Diabetes and Metabolism
Biology
Molecular Biology
Biochemistry
Throughput (business)
Gene
Novel mutation
Automated method

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