Newborn screening for Fabry disease: Is the A143T allele a...

Molecular Genetics and Metabolism 2015 / 02 Vol. 114; Iss. 2

Newborn screening for Fabry disease: Is the A143T allele a pathogenic mutation or a pseudodeficiency allele?

Atherton, Andrea M., Doheny, Dana, Peck, Dawn, Christensen, Katherine, Smith, Kayla, Manwaring, Linda, Kiesling, Jami, Hillman, Richard, Font-Montgomery, Esperanza, Shinawi, Marwan, Grange, Dorothy K.
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Volume:
114
Language:
english
Journal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2014.12.013
Date:
February, 2015
File:
PDF, 154 KB
english, 2015
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