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Two families with novel missense mutations in COL4A1: When diagnosis can be missed

Document Type

Article

Author

Giorgio, E.; Mancini, C.; Calcia, A.; Brusco, A.; Brussino, A.; Vaula, G.; Giacone, S.; Leombruni, S.; Pinessi, L.; Cerrato, P.; Bosco, G.; Cavalieri, S.; Di Gregorio, E.; Rigault De Longrais, R.

Source

In: Journal of the Neurological Sciences. (Journal of the Neurological Sciences, 15 May 2015, 352(1-2):99-104)

Subject

Language

English

ISSN

18785883
0022510X

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science JCR 저널정보 Scopus Find it@PNU

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