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...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2015-12-01
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Series: | Molecular Genetics and Metabolism Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426915300422 |