CTNS mutations in publicly-available human cystinosis cell lines

Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information. During studies directed toward population frequency assessments...

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Detalles Bibliográficos
Autores principales: Zykovich, Artem, Kinkade, Renee, Royal, Gary, Zankel, Todd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471396/
https://www.ncbi.nlm.nih.gov/pubmed/28649545
http://dx.doi.org/10.1016/j.ymgmr.2015.10.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471396/
https://www.ncbi.nlm.nih.gov/pubmed/28649545
http://dx.doi.org/10.1016/j.ymgmr.2015.10.007

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