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CUGC for lysinuric protein intolerance (LPI).

Authors :
Martinelli D
Schiff M
Semeraro M
Agolini E
Novelli A
Dionisi-Vici C
Source :
European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Aug; Vol. 28 (8), pp. 1129-1134. Date of Electronic Publication: 2020 Apr 06.
Publication Year :
2020

Subjects

Subjects :
Amino Acid Metabolism, Inborn Errors diagnosis
Genetic Testing standards
Humans
Mutation
Sensitivity and Specificity
Amino Acid Metabolism, Inborn Errors genetics
Amino Acid Transport System y+L genetics
Genetic Testing methods

Details

Language :
English
ISSN :
1476-5438
Volume :
28
Issue :
8
Database :
MEDLINE
Journal :
European journal of human genetics : EJHG
Publication Type :
Academic Journal
Accession number :
32249831
Full Text :
https://doi.org/10.1038/s41431-020-0617-9
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