Reclassification of common variants of unknown significance in the hexosaminidase A gene: Implications for Tay-Sachs disease carrier screening

Autor:	Krista Moyer, Karen A. Grinzaid, Laura A. Kiger, Dale Muzzey, Eerik Kaseniit, Melanie W Hardy, Elizabeth D. Smith, Alana C. Cecchi
Rok vydání:	2018
Předmět:	Genetics Endocrinology Diabetes and Metabolism Tay-Sachs disease Biology medicine.disease Biochemistry Endocrinology Unknown Significance medicine Hexosaminidase Carrier screening Molecular Biology Gene
Zdroj:	Molecular Genetics and Metabolism. 123:S133
ISSN:	1096-7192
DOI:	10.1016/j.ymgme.2017.12.363
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::18035c19cda3f8b544c9ed837e613f26 https://doi.org/10.1016/j.ymgme.2017.12.363 Zobrazit plný text záznamu Full Text from ScienceDirect