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A pathogenic S250F missense mutation results in a mouse model of mild aromatic L-amino acid decarboxylase (AADC) deficiency.
Caine, Charlotte, Shohat, Meytal, Kim, Jeong-Ki, Nakanishi, Koki, Homma, Shunichi, Mosharov, Eugene V., Monani, Umrao R.Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddx326
Date:
August, 2017
File:
PDF, 2.13 MB
english, 2017