Result: Identification of a TPP1 Q278X mutation in an iranian patient with neuronal ceroid lipofuscinosis 2: literature review and mutations update

*Title*:

*Author/editor-in-chief*:

*Publication*:

Freiburg : Universität, 2022

*Physical description scale*:

1 Online-Ressource

*Format*:

*eBook*

*Language*:

*eng*

*Notes*:

Journal of Clinical Medicine. - 11, 21 (2022) , 6415, ISSN: 2077-0383

*DOI*:

10.3390/jcm11216415

*Result*: Identification of a TPP1 Q278X mutation in an iranian patient with neuronal ceroid lipofuscinosis 2: literature review and mutations update