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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Bibliographic Details
Main Authors: Artem Zykovich, Renee Kinkade, Gary Royal, Todd Zankel
Format: Article
Language:English
Published: Elsevier 2015-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426915300422