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Identification of a HEXB variant of unknown clinical significance in a family with Sandhoff disease

Authors :
Morgan F. Simmons
Dawn Laney
Source :
Molecular Genetics and Metabolism. 123:S131-S132
Publication Year :
2018
Publisher :
Elsevier BV, 2018.

Subjects

Subjects :
Genetics
business.industry
Endocrinology, Diabetes and Metabolism
Sandhoff disease
medicine.disease
Biochemistry
HEXB
Endocrinology
medicine
Identification (biology)
Clinical significance
business
Molecular Biology

Details

ISSN :
10967192
Volume :
123
Database :
OpenAIRE
Journal :
Molecular Genetics and Metabolism
Accession number :
edsair.doi...........8b93df9d0635f1cb603f870ad2f0b6c2
Full Text :
https://doi.org/10.1016/j.ymgme.2017.12.359
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