Prolonged survival in a patient with a novel pyrroline‐5‐carboxylase reductase 2 genetic variant

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Bibliographic Details
Published inEuropean journal of neurology Vol. 26; no. 4; pp. e45 - e46
Main Authors Spagnoli, C., Pavlidis, E., Salerno, G. G., Koskinen, L., Kääriäinen, H., Frattini, D., Koskenvuo, J. W., Fusco, C.
Format Journal Article
LanguageEnglish
Published England John Wiley & Sons, Inc 01.04.2019
Subjects
Genetic diversity
Genetic variance
leucodystrophy
microcephaly
PYCR2
Reductase
Survival
microcephaly
leucodystrophy
PYCR2
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Bibliography:SourceType-Other Sources-1
content type line 63
ObjectType-Correspondence-1
ISSN:1351-5101
1468-1331
DOI:10.1111/ene.13817