A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

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A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

Author: Reith, Milda; Zeltner, Lena; Schaeferhoff, Karin; Witt, Dennis; Zuleger, Theresia; Haack, Tobias B.; Bornemann, Antje; Alber, Michael; Ruf, Susanne; Schoels, Ludger; Stingl, Katarina; Weisschuh, Nicole
Tübinger Autor(en):
Reith, Milda
Zeltner, Lena
Witt, Dennis
Zuleger, Theresia
Bornemann, Antje
Ruf, Susanne
Stingl, Katarina
Weisschuh, Nicole
Schäferhoff, Karin
Haack, Tobias
Alber, Michael Wolfgang Hans-Peter
Schöls, Ludger
Published in: International Journal of Molecular Sciences (2022), Bd. 23 (4), Article 2271
Verlagsangabe: Mdpi
Language: English
Full text: http://dx.doi.org/10.3390/ijms23042271
ISSN: 1422-0067
DDC Classifikation: 540 - Chemistry and allied sciences
570 - Life sciences; biology
Dokumentart: Article
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