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Uniparental disomy of chromosome 1 unmasks recessive mutati..:
Travaglini, Lorena
;
Aiello, Chiara
;
Alesi, Viola
...
Brain and Development. 39 (2017) 2 - p. 182-183 , 2017
Link:
https://doi.org/10.1016/j.braindev.2016.08.010
RT Journal T1
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.braindev.2016.08.010&Exemplar=1&LAN=DE A1 Travaglini, Lorena A1 Aiello, Chiara A1 Alesi, Viola A1 Loddo, Sara A1 Novelli, Antonio A1 Tozzi, Giulia A1 Bertini, Enrico A1 Leuzzi, Vincenzo A1 Brancati, Francesco PB Elsevier BV YR 2017 SN 0387-7604 JF Brain and Development VO 39 IS 2 SP 182 OP 183 LK http://dx.doi.org/https://doi.org/10.1016/j.braindev.2016.08.010 DO https://doi.org/10.1016/j.braindev.2016.08.010 SF ELIB - SuUB Bremen
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